Canonical Allele Identifier: CA519113338
Gene: MTM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.149809888T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150641415T>A , CM000685.2:g.150641415T>A GRCh38
NC_000023.10:g.149809888T>A , CM000685.1:g.149809888T>A GRCh37
NC_000023.9:g.149560546T>A NCBI36
NG_008199.1:g.77842T>A , LRG_839:g.77842T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684910.1:c.*208T>A ENSP00000509844.1:n.*208T>A
ENST00000685439.1:c.330T>A ENSP00000508454.1:p.Ile110=
ENST00000685944.1:c.675T>A ENSP00000509266.1:p.Ile225=
ENST00000686212.1:n.277T>A
ENST00000687215.1:c.*430T>A ENSP00000509706.1:n.*430T>A
ENST00000688152.1:c.*119T>A ENSP00000509360.1:n.*119T>A
ENST00000688403.1:c.-70T>A ENSP00000508944.1:n.-70T>A
ENST00000689314.1:c.720T>A ENSP00000510607.1:p.Ile240=
ENST00000689694.1:c.675T>A ENSP00000508718.1:p.Ile225=
ENST00000689810.1:c.*324T>A ENSP00000510635.1:n.*324T>A
ENST00000690282.1:c.-70T>A ENSP00000509809.1:n.-70T>A
ENST00000690351.1:c.*327T>A ENSP00000509728.1:n.*327T>A
ENST00000691232.1:c.330T>A ENSP00000509675.1:p.Ile110=
ENST00000691482.1:n.1690T>A
ENST00000691686.1:c.675T>A ENSP00000509784.1:p.Ile225=
ENST00000691851.1:c.675T>A ENSP00000510106.1:p.Ile225=
ENST00000692015.1:c.462T>A ENSP00000510634.1:p.Ile154=
ENST00000692638.1:c.*480T>A ENSP00000509412.1:n.*480T>A
ENST00000692852.1:c.675T>A ENSP00000510337.1:p.Ile225=
ENST00000692915.1:c.*882T>A ENSP00000508547.1:n.*882T>A
ENST00000370396.7:c.675T>A MANE Select ENSP00000359423.3:p.Ile225=
ENST00000306167.11:n.542T>A
ENST00000370396.6:c.675T>A ENSP00000359423.2:p.Ile225=
ENST00000490530.1:n.614T>A
NM_000252.2:c.675T>A , LRG_839t1:c.675T>A NP_000243.1:p.Ile225=
XM_005274687.2:c.675T>A XP_005274744.1:p.Ile225=
XM_011531170.1:c.741T>A XP_011529472.1:p.Ile247=
XM_011531171.1:c.720T>A XP_011529473.1:p.Ile240=
XM_011531172.1:c.720T>A XP_011529474.1:p.Ile240=
XM_011531173.1:c.675T>A XP_011529475.1:p.Ile225=
XM_011531173.2:c.675T>A XP_011529475.1:p.Ile225=
XM_017029547.1:c.720T>A XP_016885036.1:p.Ile240=
XM_017029548.1:c.720T>A XP_016885037.1:p.Ile240=
XM_017029549.1:c.675T>A XP_016885038.1:p.Ile225=
XM_017029550.1:c.564T>A XP_016885039.1:p.Ile188=
XM_017029551.2:c.-70T>A XP_016885040.1:n.-70T>A
NM_000252.3:c.675T>A MANE Select NP_000243.1:p.Ile225=
NM_001376906.1:c.675T>A NP_001363835.1:p.Ile225=
NM_001376907.1:c.564T>A NP_001363836.1:p.Ile188=
NM_001376908.1:c.675T>A NP_001363837.1:p.Ile225=