Canonical Allele Identifier: CA519113227

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149809753T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641280T>C , CM000685.2:g.150641280T>C	GRCh38
NC_000023.10:g.149809753T>C , CM000685.1:g.149809753T>C	GRCh37
NC_000023.9:g.149560411T>C	NCBI36
NG_008199.1:g.77707T>C , LRG_839:g.77707T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*73T>C	ENSP00000509844.1:n.*73T>C
ENST00000685439.1:c.195T>C	ENSP00000508454.1:p.Asn65=
ENST00000685944.1:c.540T>C	ENSP00000509266.1:p.Asn180=
ENST00000686212.1:n.142T>C
ENST00000687215.1:c.*295T>C	ENSP00000509706.1:n.*295T>C
ENST00000688152.1:c.596T>C	ENSP00000509360.1:p.Ile199Thr
ENST00000688403.1:c.-205T>C	ENSP00000508944.1:n.-205T>C
ENST00000689314.1:c.585T>C	ENSP00000510607.1:p.Asn195=
ENST00000689694.1:c.540T>C	ENSP00000508718.1:p.Asn180=
ENST00000689810.1:c.*189T>C	ENSP00000510635.1:n.*189T>C
ENST00000690282.1:c.-205T>C	ENSP00000509809.1:n.-205T>C
ENST00000690351.1:c.*192T>C	ENSP00000509728.1:n.*192T>C
ENST00000691232.1:c.195T>C	ENSP00000509675.1:p.Asn65=
ENST00000691482.1:n.1555T>C
ENST00000691686.1:c.540T>C	ENSP00000509784.1:p.Asn180=
ENST00000691851.1:c.540T>C	ENSP00000510106.1:p.Asn180=
ENST00000692015.1:c.327T>C	ENSP00000510634.1:p.Asn109=
ENST00000692638.1:c.*345T>C	ENSP00000509412.1:n.*345T>C
ENST00000692852.1:c.540T>C	ENSP00000510337.1:p.Asn180=
ENST00000692915.1:c.*747T>C	ENSP00000508547.1:n.*747T>C
ENST00000370396.7:c.540T>C MANE Select	ENSP00000359423.3:p.Asn180=
ENST00000306167.11:n.407T>C
ENST00000370396.6:c.540T>C	ENSP00000359423.2:p.Asn180=
ENST00000490530.1:n.479T>C
NM_000252.2:c.540T>C , LRG_839t1:c.540T>C	NP_000243.1:p.Asn180=
XM_005274687.2:c.540T>C	XP_005274744.1:p.Asn180=
XM_011531170.1:c.606T>C	XP_011529472.1:p.Asn202=
XM_011531171.1:c.585T>C	XP_011529473.1:p.Asn195=
XM_011531172.1:c.585T>C	XP_011529474.1:p.Asn195=
XM_011531173.1:c.540T>C	XP_011529475.1:p.Asn180=
XM_011531173.2:c.540T>C	XP_011529475.1:p.Asn180=
XM_017029547.1:c.585T>C	XP_016885036.1:p.Asn195=
XM_017029548.1:c.585T>C	XP_016885037.1:p.Asn195=
XM_017029549.1:c.540T>C	XP_016885038.1:p.Asn180=
XM_017029550.1:c.429T>C	XP_016885039.1:p.Asn143=
XM_017029551.2:c.-205T>C	XP_016885040.1:n.-205T>C
NM_000252.3:c.540T>C MANE Select	NP_000243.1:p.Asn180=
NM_001376906.1:c.540T>C	NP_001363835.1:p.Asn180=
NM_001376907.1:c.429T>C	NP_001363836.1:p.Asn143=
NM_001376908.1:c.540T>C	NP_001363837.1:p.Asn180=