Canonical Allele Identifier: CA415255950

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149809749C>T (hg19) ; chrX:g.150641276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641276C>T , CM000685.2:g.150641276C>T	GRCh38
NC_000023.10:g.149809749C>T , CM000685.1:g.149809749C>T	GRCh37
NC_000023.9:g.149560407C>T	NCBI36
NG_008199.1:g.77703C>T , LRG_839:g.77703C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*69C>T	ENSP00000509844.1:n.*69C>T
ENST00000685439.1:c.191C>T	ENSP00000508454.1:p.Pro64Leu
ENST00000685944.1:c.536C>T	ENSP00000509266.1:p.Pro179Leu
ENST00000686212.1:n.138C>T
ENST00000687215.1:c.*291C>T	ENSP00000509706.1:n.*291C>T
ENST00000688152.1:c.592C>T	ENSP00000509360.1:p.Pro198Ser
ENST00000688403.1:c.-209C>T	ENSP00000508944.1:n.-209C>T
ENST00000689314.1:c.581C>T	ENSP00000510607.1:p.Pro194Leu
ENST00000689694.1:c.536C>T	ENSP00000508718.1:p.Pro179Leu
ENST00000689810.1:c.*185C>T	ENSP00000510635.1:n.*185C>T
ENST00000690282.1:c.-209C>T	ENSP00000509809.1:n.-209C>T
ENST00000690351.1:c.*188C>T	ENSP00000509728.1:n.*188C>T
ENST00000691232.1:c.191C>T	ENSP00000509675.1:p.Pro64Leu
ENST00000691482.1:n.1551C>T
ENST00000691686.1:c.536C>T	ENSP00000509784.1:p.Pro179Leu
ENST00000691851.1:c.536C>T	ENSP00000510106.1:p.Pro179Leu
ENST00000692015.1:c.323C>T	ENSP00000510634.1:p.Pro108Leu
ENST00000692638.1:c.*341C>T	ENSP00000509412.1:n.*341C>T
ENST00000692852.1:c.536C>T	ENSP00000510337.1:p.Pro179Leu
ENST00000692915.1:c.*743C>T	ENSP00000508547.1:n.*743C>T
ENST00000370396.7:c.536C>T MANE Select	ENSP00000359423.3:p.Pro179Leu
ENST00000306167.11:n.403C>T
ENST00000370396.6:c.536C>T	ENSP00000359423.2:p.Pro179Leu
ENST00000490530.1:n.475C>T
NM_000252.2:c.536C>T , LRG_839t1:c.536C>T	NP_000243.1:p.Pro179Leu
XM_005274687.2:c.536C>T	XP_005274744.1:p.Pro179Leu
XM_011531170.1:c.602C>T	XP_011529472.1:p.Pro201Leu
XM_011531171.1:c.581C>T	XP_011529473.1:p.Pro194Leu
XM_011531172.1:c.581C>T	XP_011529474.1:p.Pro194Leu
XM_011531173.1:c.536C>T	XP_011529475.1:p.Pro179Leu
XM_011531173.2:c.536C>T	XP_011529475.1:p.Pro179Leu
XM_017029547.1:c.581C>T	XP_016885036.1:p.Pro194Leu
XM_017029548.1:c.581C>T	XP_016885037.1:p.Pro194Leu
XM_017029549.1:c.536C>T	XP_016885038.1:p.Pro179Leu
XM_017029550.1:c.425C>T	XP_016885039.1:p.Pro142Leu
XM_017029551.2:c.-209C>T	XP_016885040.1:n.-209C>T
NM_000252.3:c.536C>T MANE Select	NP_000243.1:p.Pro179Leu
NM_001376906.1:c.536C>T	NP_001363835.1:p.Pro179Leu
NM_001376907.1:c.425C>T	NP_001363836.1:p.Pro142Leu
NM_001376908.1:c.536C>T	NP_001363837.1:p.Pro179Leu