Canonical Allele Identifier: CA337092249

Gene: MTM1

Linked Data

• dbSNP Id: rs782761570
• MyVariant Identifiers: chrX:g.149809853C>A (hg19) ; chrX:g.150641380C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641380C>A , CM000685.2:g.150641380C>A	GRCh38
NC_000023.10:g.149809853C>A , CM000685.1:g.149809853C>A	GRCh37
NC_000023.9:g.149560511C>A	NCBI36
NG_008199.1:g.77807C>A , LRG_839:g.77807C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*173C>A	ENSP00000509844.1:n.*173C>A
ENST00000685439.1:c.295C>A	ENSP00000508454.1:p.Arg99=
ENST00000685944.1:c.640C>A	ENSP00000509266.1:p.Arg214=
ENST00000686212.1:n.242C>A
ENST00000687215.1:c.*395C>A	ENSP00000509706.1:n.*395C>A
ENST00000688152.1:c.*84C>A	ENSP00000509360.1:n.*84C>A
ENST00000688403.1:c.-105C>A	ENSP00000508944.1:n.-105C>A
ENST00000689314.1:c.685C>A	ENSP00000510607.1:p.Arg229=
ENST00000689694.1:c.640C>A	ENSP00000508718.1:p.Arg214=
ENST00000689810.1:c.*289C>A	ENSP00000510635.1:n.*289C>A
ENST00000690282.1:c.-105C>A	ENSP00000509809.1:n.-105C>A
ENST00000690351.1:c.*292C>A	ENSP00000509728.1:n.*292C>A
ENST00000691232.1:c.295C>A	ENSP00000509675.1:p.Arg99=
ENST00000691482.1:n.1655C>A
ENST00000691686.1:c.640C>A	ENSP00000509784.1:p.Arg214=
ENST00000691851.1:c.640C>A	ENSP00000510106.1:p.Arg214=
ENST00000692015.1:c.427C>A	ENSP00000510634.1:p.Arg143=
ENST00000692638.1:c.*445C>A	ENSP00000509412.1:n.*445C>A
ENST00000692852.1:c.640C>A	ENSP00000510337.1:p.Arg214=
ENST00000692915.1:c.*847C>A	ENSP00000508547.1:n.*847C>A
ENST00000370396.7:c.640C>A MANE Select	ENSP00000359423.3:p.Arg214=
ENST00000306167.11:n.507C>A
ENST00000370396.6:c.640C>A	ENSP00000359423.2:p.Arg214=
ENST00000490530.1:n.579C>A
NM_000252.2:c.640C>A , LRG_839t1:c.640C>A	NP_000243.1:p.Arg214=
XM_005274687.2:c.640C>A	XP_005274744.1:p.Arg214=
XM_011531170.1:c.706C>A	XP_011529472.1:p.Arg236=
XM_011531171.1:c.685C>A	XP_011529473.1:p.Arg229=
XM_011531172.1:c.685C>A	XP_011529474.1:p.Arg229=
XM_011531173.1:c.640C>A	XP_011529475.1:p.Arg214=
XM_011531173.2:c.640C>A	XP_011529475.1:p.Arg214=
XM_017029547.1:c.685C>A	XP_016885036.1:p.Arg229=
XM_017029548.1:c.685C>A	XP_016885037.1:p.Arg229=
XM_017029549.1:c.640C>A	XP_016885038.1:p.Arg214=
XM_017029550.1:c.529C>A	XP_016885039.1:p.Arg177=
XM_017029551.2:c.-105C>A	XP_016885040.1:n.-105C>A
NM_000252.3:c.640C>A MANE Select	NP_000243.1:p.Arg214=
NM_001376906.1:c.640C>A	NP_001363835.1:p.Arg214=
NM_001376907.1:c.529C>A	NP_001363836.1:p.Arg177=
NM_001376908.1:c.640C>A	NP_001363837.1:p.Arg214=