Human (GRCh38.p14)
Description

myotubularin 1 [Source:HGNC Symbol;Acc:HGNC:7448]

Location

Chromosome X: 150,568,417-150,673,143 forward strand.

GRCh38:CM000685.2

About this gene

This gene has 58 transcripts (splice variants), 220 orthologues, 13 paralogues and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000370396.7MTM1-2033412603aaENSP00000359423.3
 
Protein coding
CCDS14694Q13496-1 NM_000252.3MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS P3TSL:1
ENST00000866479.1MTM1-2494631603aaENSP00000536538.1
 
Protein coding
CCDS14694--GENCODE PrimaryGENCODE BasicAPPRIS P3
ENST00000866476.1MTM1-2463779603aaENSP00000536535.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000866468.1MTM1-2383773603aaENSP00000536527.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000866461.1MTM1-2313750603aaENSP00000536520.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000949261.1MTM1-2553728603aaENSP00000619320.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000866464.1MTM1-2343584603aaENSP00000536523.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000866467.1MTM1-2373581603aaENSP00000536526.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000866473.1MTM1-2433579603aaENSP00000536532.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000866466.1MTM1-2363532603aaENSP00000536525.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000866459.1MTM1-2293521602aaENSP00000536518.1
 
Protein coding
--GENCODE BasicAPPRIS ALT1
ENST00000689314.1MTM1-2133519618aaENSP00000510607.1
 
Protein coding
A0A8I5KZ76 -GENCODE Basic
ENST00000924085.1MTM1-2513516603aaENSP00000594144.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000866477.1MTM1-2473511603aaENSP00000536536.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000866462.1MTM1-2323510603aaENSP00000536521.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000866463.1MTM1-2333505603aaENSP00000536522.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000866470.1MTM1-2403485603aaENSP00000536529.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000949259.1MTM1-2533483603aaENSP00000619318.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000866475.1MTM1-2453479603aaENSP00000536534.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000866478.1MTM1-2483475603aaENSP00000536537.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000866458.1MTM1-2283472618aaENSP00000536517.1
 
Protein coding
--GENCODE Basic
ENST00000866465.1MTM1-2353433602aaENSP00000536524.1
 
Protein coding
--GENCODE BasicAPPRIS ALT1
ENST00000866457.1MTM1-2273430602aaENSP00000536516.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT1
ENST00000866469.1MTM1-2393424603aaENSP00000536528.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000689694.1MTM1-2143423603aaENSP00000508718.1
 
Protein coding
CCDS14694Q13496-1 -GENCODE BasicAPPRIS P3
ENST00000924084.1MTM1-2503417602aaENSP00000594143.1
 
Protein coding
--GENCODE BasicAPPRIS ALT1
ENST00000685944.1MTM1-2073416603aaENSP00000509266.1
 
Protein coding
CCDS14694Q13496-1 -GENCODE BasicAPPRIS P3
ENST00000866460.1MTM1-2303410603aaENSP00000536519.1
 
Protein coding
CCDS14694--GENCODE PrimaryGENCODE BasicAPPRIS P3
ENST00000866472.1MTM1-2423408602aaENSP00000536531.1
 
Protein coding
--GENCODE BasicAPPRIS ALT1
ENST00000949264.1MTM1-2583304583aaENSP00000619323.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000866471.1MTM1-2413297602aaENSP00000536530.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT1
ENST00000691686.1MTM1-2203237572aaENSP00000509784.1
 
Protein coding
A0A8I5QJL1 -GENCODE Basic
ENST00000949260.1MTM1-2543189531aaENSP00000619319.1
 
Protein coding
--GENCODE Basic
ENST00000692015.1MTM1-2223179532aaENSP00000510634.1
 
Protein coding
A0A8I5QJV9 -GENCODE Basic
ENST00000692852.1MTM1-2243178540aaENSP00000510337.1
 
Protein coding
A0A8I5KRS4 -GENCODE Basic
ENST00000949263.1MTM1-2573174603aaENSP00000619322.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000949262.1MTM1-2563158603aaENSP00000619321.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000685439.1MTM1-2063116488aaENSP00000508454.1
 
Protein coding
B7Z499 -GENCODE Basic
ENST00000691232.1MTM1-2183061488aaENSP00000509675.1
 
Protein coding
B7Z499 -GENCODE Basic
ENST00000688403.1MTM1-2123008355aaENSP00000508944.1
 
Protein coding
A0A8I5KQR6 -GENCODE Basic
ENST00000866474.1MTM1-2442993603aaENSP00000536533.1
 
Protein coding
CCDS14694--GENCODE BasicAPPRIS P3
ENST00000690282.1MTM1-2162917355aaENSP00000509809.1
 
Protein coding
A0A8I5KQR6 -GENCODE Basic
ENST00000691851.1MTM1-2212731406aaENSP00000510106.1
 
Protein coding
A0A8I5KW93 -GENCODE Basic
ENST00000924086.1MTM1-2522567329aaENSP00000594145.1
 
Protein coding
--GENCODE Basic
ENST00000692915.1MTM1-225373085aaENSP00000508547.1
 
Nonsense mediated decay
A0A8I5KNI6 --
ENST00000689810.1MTM1-2153561168aaENSP00000510635.1
 
Nonsense mediated decay
A0A8I5KZ85 --
ENST00000687215.1MTM1-209348161aaENSP00000509706.1
 
Nonsense mediated decay
A0A8I5KYA6 --
ENST00000688152.1MTM1-2113468203aaENSP00000509360.1
 
Nonsense mediated decay
A0A8I5KVB1 --
ENST00000692638.1MTM1-223335351aaENSP00000509412.1
 
Nonsense mediated decay
A0A8I5KT87 --
ENST00000690351.1MTM1-217324065aaENSP00000509728.1
 
Nonsense mediated decay
A0A8I5KVR9 --
ENST00000684910.1MTM1-205308752aaENSP00000509844.1
 
Nonsense mediated decay
A0A8I5KYJ1 --
ENST00000306167.11MTM1-2012955No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000490530.1MTM1-204806No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000691482.1MTM1-2197231No protein-
 
Retained intron
---
ENST00000686212.1MTM1-2082921No protein-
 
Retained intron
---
ENST00000693422.1MTM1-2261731No protein-
 
Retained intron
---
ENST00000687365.1MTM1-2101411No protein-
 
Retained intron
---
ENST00000370393.5MTM1-202607No protein-
 
Retained intron
--TSL:5