Canonical Allele Identifier: CA415258902

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149826477A>C (hg19) ; chrX:g.150658004A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150658004A>C , CM000685.2:g.150658004A>C	GRCh38
NC_000023.10:g.149826477A>C , CM000685.1:g.149826477A>C	GRCh37
NC_000023.9:g.149577135A>C	NCBI36
NG_008199.1:g.94431A>C , LRG_839:g.94431A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*770A>C	ENSP00000509844.1:n.*770A>C
ENST00000685439.1:c.892A>C	ENSP00000508454.1:p.Ser298Arg
ENST00000685944.1:c.1237A>C	ENSP00000509266.1:p.Ser413Arg
ENST00000686212.1:n.839A>C
ENST00000687215.1:c.*992A>C	ENSP00000509706.1:n.*992A>C
ENST00000688152.1:c.*681A>C	ENSP00000509360.1:n.*681A>C
ENST00000688403.1:c.493A>C	ENSP00000508944.1:p.Ser165Arg
ENST00000689314.1:c.1282A>C	ENSP00000510607.1:p.Ser428Arg
ENST00000689694.1:c.1237A>C	ENSP00000508718.1:p.Ser413Arg
ENST00000689810.1:c.*886A>C	ENSP00000510635.1:n.*886A>C
ENST00000690282.1:c.493A>C	ENSP00000509809.1:p.Ser165Arg
ENST00000690351.1:c.*889A>C	ENSP00000509728.1:n.*889A>C
ENST00000691232.1:c.892A>C	ENSP00000509675.1:p.Ser298Arg
ENST00000691482.1:n.2252A>C
ENST00000691686.1:c.1237A>C	ENSP00000509784.1:p.Ser413Arg
ENST00000691851.1:c.1053+8103A>C	ENSP00000510106.1:n.1053+8103A>C
ENST00000692015.1:c.1024A>C	ENSP00000510634.1:p.Ser342Arg
ENST00000692638.1:c.*1042A>C	ENSP00000509412.1:n.*1042A>C
ENST00000692852.1:c.1048A>C	ENSP00000510337.1:p.Ser350Arg
ENST00000692915.1:c.*1383A>C	ENSP00000508547.1:n.*1383A>C
ENST00000370396.7:c.1237A>C MANE Select	ENSP00000359423.3:p.Ser413Arg
ENST00000306167.11:n.1104A>C
ENST00000370396.6:c.1237A>C	ENSP00000359423.2:p.Ser413Arg
NM_000252.2:c.1237A>C , LRG_839t1:c.1237A>C	NP_000243.1:p.Ser413Arg
XM_005274687.2:c.1237A>C	XP_005274744.1:p.Ser413Arg
XM_011531170.1:c.1303A>C	XP_011529472.1:p.Ser435Arg
XM_011531171.1:c.1282A>C	XP_011529473.1:p.Ser428Arg
XM_011531172.1:c.1282A>C	XP_011529474.1:p.Ser428Arg
XM_011531173.1:c.1237A>C	XP_011529475.1:p.Ser413Arg
XM_011531173.2:c.1237A>C	XP_011529475.1:p.Ser413Arg
XM_017029547.1:c.1282A>C	XP_016885036.1:p.Ser428Arg
XM_017029548.1:c.1282A>C	XP_016885037.1:p.Ser428Arg
XM_017029549.1:c.1237A>C	XP_016885038.1:p.Ser413Arg
XM_017029550.1:c.1126A>C	XP_016885039.1:p.Ser376Arg
XM_017029551.2:c.493A>C	XP_016885040.1:p.Ser165Arg
NM_000252.3:c.1237A>C MANE Select	NP_000243.1:p.Ser413Arg
NM_001376906.1:c.1237A>C	NP_001363835.1:p.Ser413Arg
NM_001376907.1:c.1126A>C	NP_001363836.1:p.Ser376Arg
NM_001376908.1:c.1237A>C	NP_001363837.1:p.Ser413Arg