Canonical Allele Identifier: CA337093014

Gene: MTM1

Linked Data

• ClinVar Variation Id: 530857
• ClinVar RCV Id: RCV000636901
• dbSNP Id: rs941979306
• MyVariant Identifiers: chrX:g.149826359G>A (hg19) ; chrX:g.150657886G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150657886G>A , CM000685.2:g.150657886G>A	GRCh38
NC_000023.10:g.149826359G>A , CM000685.1:g.149826359G>A	GRCh37
NC_000023.9:g.149577017G>A	NCBI36
NG_008199.1:g.94313G>A , LRG_839:g.94313G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*652G>A	ENSP00000509844.1:n.*652G>A
ENST00000685439.1:c.774G>A	ENSP00000508454.1:p.Val258=
ENST00000685944.1:c.1119G>A	ENSP00000509266.1:p.Val373=
ENST00000686212.1:n.721G>A
ENST00000687215.1:c.*874G>A	ENSP00000509706.1:n.*874G>A
ENST00000688152.1:c.*563G>A	ENSP00000509360.1:n.*563G>A
ENST00000688403.1:c.375G>A	ENSP00000508944.1:p.Val125=
ENST00000689314.1:c.1164G>A	ENSP00000510607.1:p.Val388=
ENST00000689694.1:c.1119G>A	ENSP00000508718.1:p.Val373=
ENST00000689810.1:c.*768G>A	ENSP00000510635.1:n.*768G>A
ENST00000690282.1:c.375G>A	ENSP00000509809.1:p.Val125=
ENST00000690351.1:c.*771G>A	ENSP00000509728.1:n.*771G>A
ENST00000691232.1:c.774G>A	ENSP00000509675.1:p.Val258=
ENST00000691482.1:n.2134G>A
ENST00000691686.1:c.1119G>A	ENSP00000509784.1:p.Val373=
ENST00000691851.1:c.1053+7985G>A	ENSP00000510106.1:n.1053+7985G>A
ENST00000692015.1:c.906G>A	ENSP00000510634.1:p.Val302=
ENST00000692638.1:c.*924G>A	ENSP00000509412.1:n.*924G>A
ENST00000692852.1:c.930G>A	ENSP00000510337.1:p.Val310=
ENST00000692915.1:c.*1265G>A	ENSP00000508547.1:n.*1265G>A
ENST00000370396.7:c.1119G>A MANE Select	ENSP00000359423.3:p.Val373=
ENST00000306167.11:n.986G>A
ENST00000370396.6:c.1119G>A	ENSP00000359423.2:p.Val373=
NM_000252.2:c.1119G>A , LRG_839t1:c.1119G>A	NP_000243.1:p.Val373=
XM_005274687.2:c.1119G>A	XP_005274744.1:p.Val373=
XM_011531170.1:c.1185G>A	XP_011529472.1:p.Val395=
XM_011531171.1:c.1164G>A	XP_011529473.1:p.Val388=
XM_011531172.1:c.1164G>A	XP_011529474.1:p.Val388=
XM_011531173.1:c.1119G>A	XP_011529475.1:p.Val373=
XM_011531173.2:c.1119G>A	XP_011529475.1:p.Val373=
XM_017029547.1:c.1164G>A	XP_016885036.1:p.Val388=
XM_017029548.1:c.1164G>A	XP_016885037.1:p.Val388=
XM_017029549.1:c.1119G>A	XP_016885038.1:p.Val373=
XM_017029550.1:c.1008G>A	XP_016885039.1:p.Val336=
XM_017029551.2:c.375G>A	XP_016885040.1:p.Val125=
NM_000252.3:c.1119G>A MANE Select	NP_000243.1:p.Val373=
NM_001376906.1:c.1119G>A	NP_001363835.1:p.Val373=
NM_001376907.1:c.1008G>A	NP_001363836.1:p.Val336=
NM_001376908.1:c.1119G>A	NP_001363837.1:p.Val373=