Canonical Allele Identifier: CA2465380851
Gene: MTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150641376C= , CM000685.2:g.150641376C= GRCh38
NC_000023.10:g.149809849C= , CM000685.1:g.149809849C= GRCh37
NC_000023.9:g.149560507C= NCBI36
NG_008199.1:g.77803C= , LRG_839:g.77803C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684910.1:c.*169C= ENSP00000509844.1:n.*169C=
ENST00000685439.1:c.291C= ENSP00000508454.1:p.Asp97=
ENST00000685944.1:c.636C= ENSP00000509266.1:p.Asp212=
ENST00000686212.1:n.238C=
ENST00000687215.1:c.*391C= ENSP00000509706.1:n.*391C=
ENST00000688152.1:c.*80C= ENSP00000509360.1:n.*80C=
ENST00000688403.1:c.-109C= ENSP00000508944.1:n.-109C=
ENST00000689314.1:c.681C= ENSP00000510607.1:p.Asp227=
ENST00000689694.1:c.636C= ENSP00000508718.1:p.Asp212=
ENST00000689810.1:c.*285C= ENSP00000510635.1:n.*285C=
ENST00000690282.1:c.-109C= ENSP00000509809.1:n.-109C=
ENST00000690351.1:c.*288C= ENSP00000509728.1:n.*288C=
ENST00000691232.1:c.291C= ENSP00000509675.1:p.Asp97=
ENST00000691482.1:n.1651C=
ENST00000691686.1:c.636C= ENSP00000509784.1:p.Asp212=
ENST00000691851.1:c.636C= ENSP00000510106.1:p.Asp212=
ENST00000692015.1:c.423C= ENSP00000510634.1:p.Asp141=
ENST00000692638.1:c.*441C= ENSP00000509412.1:n.*441C=
ENST00000692852.1:c.636C= ENSP00000510337.1:p.Asp212=
ENST00000692915.1:c.*843C= ENSP00000508547.1:n.*843C=
ENST00000370396.7:c.636C= MANE Select ENSP00000359423.3:p.Asp212=
ENST00000306167.11:n.503C=
ENST00000370396.6:c.636C= ENSP00000359423.2:p.Asp212=
ENST00000490530.1:n.575C=
NM_000252.2:c.636C= , LRG_839t1:c.636C= NP_000243.1:p.Asp212=
XM_005274687.2:c.636C= XP_005274744.1:p.Asp212=
XM_011531170.1:c.702C= XP_011529472.1:p.Asp234=
XM_011531171.1:c.681C= XP_011529473.1:p.Asp227=
XM_011531172.1:c.681C= XP_011529474.1:p.Asp227=
XM_011531173.1:c.636C= XP_011529475.1:p.Asp212=
XM_011531173.2:c.636C= XP_011529475.1:p.Asp212=
XM_017029547.1:c.681C= XP_016885036.1:p.Asp227=
XM_017029548.1:c.681C= XP_016885037.1:p.Asp227=
XM_017029549.1:c.636C= XP_016885038.1:p.Asp212=
XM_017029550.1:c.525C= XP_016885039.1:p.Asp175=
XM_017029551.2:c.-109C= XP_016885040.1:n.-109C=
NM_000252.3:c.636C= MANE Select NP_000243.1:p.Asp212=
NM_001376906.1:c.636C= NP_001363835.1:p.Asp212=
NM_001376907.1:c.525C= NP_001363836.1:p.Asp175=
NM_001376908.1:c.636C= NP_001363837.1:p.Asp212=