Canonical Allele Identifier: CA415256326

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149814175C>A (hg19) ; chrX:g.150645702C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150645702C>A , CM000685.2:g.150645702C>A	GRCh38
NC_000023.10:g.149814175C>A , CM000685.1:g.149814175C>A	GRCh37
NC_000023.9:g.149564833C>A	NCBI36
NG_008199.1:g.82129C>A , LRG_839:g.82129C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*231C>A	ENSP00000509844.1:n.*231C>A
ENST00000685439.1:c.353C>A	ENSP00000508454.1:p.Pro118Gln
ENST00000685944.1:c.698C>A	ENSP00000509266.1:p.Pro233Gln
ENST00000686212.1:n.300C>A
ENST00000687215.1:c.*453C>A	ENSP00000509706.1:n.*453C>A
ENST00000688152.1:c.*142C>A	ENSP00000509360.1:n.*142C>A
ENST00000688403.1:c.-47C>A	ENSP00000508944.1:n.-47C>A
ENST00000689314.1:c.743C>A	ENSP00000510607.1:p.Pro248Gln
ENST00000689694.1:c.698C>A	ENSP00000508718.1:p.Pro233Gln
ENST00000689810.1:c.*347C>A	ENSP00000510635.1:n.*347C>A
ENST00000690282.1:c.-47C>A	ENSP00000509809.1:n.-47C>A
ENST00000690351.1:c.*350C>A	ENSP00000509728.1:n.*350C>A
ENST00000691232.1:c.353C>A	ENSP00000509675.1:p.Pro118Gln
ENST00000691482.1:n.1713C>A
ENST00000691686.1:c.698C>A	ENSP00000509784.1:p.Pro233Gln
ENST00000691851.1:c.698C>A	ENSP00000510106.1:p.Pro233Gln
ENST00000692015.1:c.485C>A	ENSP00000510634.1:p.Pro162Gln
ENST00000692638.1:c.*503C>A	ENSP00000509412.1:n.*503C>A
ENST00000692852.1:c.679-4014C>A	ENSP00000510337.1:n.679-4014C>A
ENST00000692915.1:c.*905C>A	ENSP00000508547.1:n.*905C>A
ENST00000370396.7:c.698C>A MANE Select	ENSP00000359423.3:p.Pro233Gln
ENST00000306167.11:n.565C>A
ENST00000370396.6:c.698C>A	ENSP00000359423.2:p.Pro233Gln
ENST00000490530.1:n.637C>A
NM_000252.2:c.698C>A , LRG_839t1:c.698C>A	NP_000243.1:p.Pro233Gln
XM_005274687.2:c.698C>A	XP_005274744.1:p.Pro233Gln
XM_011531170.1:c.764C>A	XP_011529472.1:p.Pro255Gln
XM_011531171.1:c.743C>A	XP_011529473.1:p.Pro248Gln
XM_011531172.1:c.743C>A	XP_011529474.1:p.Pro248Gln
XM_011531173.1:c.698C>A	XP_011529475.1:p.Pro233Gln
XM_011531173.2:c.698C>A	XP_011529475.1:p.Pro233Gln
XM_017029547.1:c.743C>A	XP_016885036.1:p.Pro248Gln
XM_017029548.1:c.743C>A	XP_016885037.1:p.Pro248Gln
XM_017029549.1:c.698C>A	XP_016885038.1:p.Pro233Gln
XM_017029550.1:c.587C>A	XP_016885039.1:p.Pro196Gln
XM_017029551.2:c.-47C>A	XP_016885040.1:n.-47C>A
NM_000252.3:c.698C>A MANE Select	NP_000243.1:p.Pro233Gln
NM_001376906.1:c.698C>A	NP_001363835.1:p.Pro233Gln
NM_001376907.1:c.587C>A	NP_001363836.1:p.Pro196Gln
NM_001376908.1:c.698C>A	NP_001363837.1:p.Pro233Gln