Canonical Allele Identifier: CA519116038

Gene: MTM1

Linked Data

• ClinVar Variation Id: 1532909
• ClinVar RCV Id: RCV002087372
• dbSNP Id: rs587783805
• MyVariant Identifiers: chrX:g.149831996C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150663523C>A , CM000685.2:g.150663523C>A	GRCh38
NC_000023.10:g.149831996C>A , CM000685.1:g.149831996C>A	GRCh37
NC_000023.9:g.149582654C>A	NCBI36
NG_008199.1:g.99950C>A , LRG_839:g.99950C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*1091C>A	ENSP00000509844.1:n.*1091C>A
ENST00000685439.1:c.1213C>A	ENSP00000508454.1:p.Arg405=
ENST00000685944.1:c.1558C>A	ENSP00000509266.1:p.Arg520=
ENST00000686212.1:n.1160C>A
ENST00000687215.1:c.*1313C>A	ENSP00000509706.1:n.*1313C>A
ENST00000688152.1:c.*1002C>A	ENSP00000509360.1:n.*1002C>A
ENST00000688403.1:c.814C>A	ENSP00000508944.1:p.Arg272=
ENST00000689314.1:c.1603C>A	ENSP00000510607.1:p.Arg535=
ENST00000689694.1:c.1558C>A	ENSP00000508718.1:p.Arg520=
ENST00000689810.1:c.*1207C>A	ENSP00000510635.1:n.*1207C>A
ENST00000690282.1:c.814C>A	ENSP00000509809.1:p.Arg272=
ENST00000690351.1:c.*1210C>A	ENSP00000509728.1:n.*1210C>A
ENST00000691232.1:c.1213C>A	ENSP00000509675.1:p.Arg405=
ENST00000691482.1:n.5521C>A
ENST00000691686.1:c.1465C>A	ENSP00000509784.1:p.Arg489=
ENST00000691851.1:c.1054-7905C>A	ENSP00000510106.1:n.1054-7905C>A
ENST00000692015.1:c.1345C>A	ENSP00000510634.1:p.Arg449=
ENST00000692638.1:c.*1356C>A	ENSP00000509412.1:n.*1356C>A
ENST00000692852.1:c.1369C>A	ENSP00000510337.1:p.Arg457=
ENST00000692915.1:c.*1704C>A	ENSP00000508547.1:n.*1704C>A
ENST00000370396.7:c.1558C>A MANE Select	ENSP00000359423.3:p.Arg520=
ENST00000306167.11:n.1425C>A
ENST00000370396.6:c.1558C>A	ENSP00000359423.2:p.Arg520=
NM_000252.2:c.1558C>A , LRG_839t1:c.1558C>A	NP_000243.1:p.Arg520=
XM_005274687.2:c.1558C>A	XP_005274744.1:p.Arg520=
XM_011531170.1:c.1624C>A	XP_011529472.1:p.Arg542=
XM_011531171.1:c.1603C>A	XP_011529473.1:p.Arg535=
XM_011531172.1:c.1603C>A	XP_011529474.1:p.Arg535=
XM_011531173.1:c.1558C>A	XP_011529475.1:p.Arg520=
XM_011531173.2:c.1558C>A	XP_011529475.1:p.Arg520=
XM_017029547.1:c.1603C>A	XP_016885036.1:p.Arg535=
XM_017029548.1:c.1603C>A	XP_016885037.1:p.Arg535=
XM_017029549.1:c.1558C>A	XP_016885038.1:p.Arg520=
XM_017029550.1:c.1447C>A	XP_016885039.1:p.Arg483=
XM_017029551.2:c.814C>A	XP_016885040.1:p.Arg272=
NM_000252.3:c.1558C>A MANE Select	NP_000243.1:p.Arg520=
NM_001376906.1:c.1558C>A	NP_001363835.1:p.Arg520=
NM_001376907.1:c.1447C>A	NP_001363836.1:p.Arg483=
NM_001376908.1:c.1558C>A	NP_001363837.1:p.Arg520=