Canonical Allele Identifier: CA10539219

Gene: MTM1

Linked Data

• ClinVar Variation Id: 530855
• ClinVar RCV Id: RCV000636898 ; RCV002529856
• dbSNP Id: rs781933660
• ExAC: X:149826450 G / A
• COSMIC: COSM1162631
• MyVariant Identifiers: chrX:g.149826450G>A (hg19) ; chrX:g.150657977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150657977G>A , CM000685.2:g.150657977G>A	GRCh38
NC_000023.10:g.149826450G>A , CM000685.1:g.149826450G>A	GRCh37
NC_000023.9:g.149577108G>A	NCBI36
NG_008199.1:g.94404G>A , LRG_839:g.94404G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*743G>A	ENSP00000509844.1:n.*743G>A
ENST00000685439.1:c.865G>A	ENSP00000508454.1:p.Glu289Lys
ENST00000685944.1:c.1210G>A	ENSP00000509266.1:p.Glu404Lys
ENST00000686212.1:n.812G>A
ENST00000687215.1:c.*965G>A	ENSP00000509706.1:n.*965G>A
ENST00000688152.1:c.*654G>A	ENSP00000509360.1:n.*654G>A
ENST00000688403.1:c.466G>A	ENSP00000508944.1:p.Glu156Lys
ENST00000689314.1:c.1255G>A	ENSP00000510607.1:p.Glu419Lys
ENST00000689694.1:c.1210G>A	ENSP00000508718.1:p.Glu404Lys
ENST00000689810.1:c.*859G>A	ENSP00000510635.1:n.*859G>A
ENST00000690282.1:c.466G>A	ENSP00000509809.1:p.Glu156Lys
ENST00000690351.1:c.*862G>A	ENSP00000509728.1:n.*862G>A
ENST00000691232.1:c.865G>A	ENSP00000509675.1:p.Glu289Lys
ENST00000691482.1:n.2225G>A
ENST00000691686.1:c.1210G>A	ENSP00000509784.1:p.Glu404Lys
ENST00000691851.1:c.1053+8076G>A	ENSP00000510106.1:n.1053+8076G>A
ENST00000692015.1:c.997G>A	ENSP00000510634.1:p.Glu333Lys
ENST00000692638.1:c.*1015G>A	ENSP00000509412.1:n.*1015G>A
ENST00000692852.1:c.1021G>A	ENSP00000510337.1:p.Glu341Lys
ENST00000692915.1:c.*1356G>A	ENSP00000508547.1:n.*1356G>A
ENST00000370396.7:c.1210G>A MANE Select	ENSP00000359423.3:p.Glu404Lys
ENST00000306167.11:n.1077G>A
ENST00000370396.6:c.1210G>A	ENSP00000359423.2:p.Glu404Lys
NM_000252.2:c.1210G>A , LRG_839t1:c.1210G>A	NP_000243.1:p.Glu404Lys
XM_005274687.2:c.1210G>A	XP_005274744.1:p.Glu404Lys
XM_011531170.1:c.1276G>A	XP_011529472.1:p.Glu426Lys
XM_011531171.1:c.1255G>A	XP_011529473.1:p.Glu419Lys
XM_011531172.1:c.1255G>A	XP_011529474.1:p.Glu419Lys
XM_011531173.1:c.1210G>A	XP_011529475.1:p.Glu404Lys
XM_011531173.2:c.1210G>A	XP_011529475.1:p.Glu404Lys
XM_017029547.1:c.1255G>A	XP_016885036.1:p.Glu419Lys
XM_017029548.1:c.1255G>A	XP_016885037.1:p.Glu419Lys
XM_017029549.1:c.1210G>A	XP_016885038.1:p.Glu404Lys
XM_017029550.1:c.1099G>A	XP_016885039.1:p.Glu367Lys
XM_017029551.2:c.466G>A	XP_016885040.1:p.Glu156Lys
NM_000252.3:c.1210G>A MANE Select	NP_000243.1:p.Glu404Lys
NM_001376906.1:c.1210G>A	NP_001363835.1:p.Glu404Lys
NM_001376907.1:c.1099G>A	NP_001363836.1:p.Glu367Lys
NM_001376908.1:c.1210G>A	NP_001363837.1:p.Glu404Lys