Canonical Allele Identifier: CA10539151

Gene: MTM1

Linked Data

• dbSNP Id: rs782210925
• ExAC: X:149814179 A / C
• gnomAD v2: X-149814179-A-C
• gnomAD v3: X-150645706-A-C
• gnomAD v4: X-150645706-A-C
• MyVariant Identifiers: chrX:g.149814179A>C (hg19) ; chrX:g.150645706A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150645706A>C , CM000685.2:g.150645706A>C	GRCh38
NC_000023.10:g.149814179A>C , CM000685.1:g.149814179A>C	GRCh37
NC_000023.9:g.149564837A>C	NCBI36
NG_008199.1:g.82133A>C , LRG_839:g.82133A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*235A>C	ENSP00000509844.1:n.*235A>C
ENST00000685439.1:c.357A>C	ENSP00000508454.1:p.Glu119Asp
ENST00000685944.1:c.702A>C	ENSP00000509266.1:p.Glu234Asp
ENST00000686212.1:n.304A>C
ENST00000687215.1:c.*457A>C	ENSP00000509706.1:n.*457A>C
ENST00000688152.1:c.*146A>C	ENSP00000509360.1:n.*146A>C
ENST00000688403.1:c.-43A>C	ENSP00000508944.1:n.-43A>C
ENST00000689314.1:c.747A>C	ENSP00000510607.1:p.Glu249Asp
ENST00000689694.1:c.702A>C	ENSP00000508718.1:p.Glu234Asp
ENST00000689810.1:c.*351A>C	ENSP00000510635.1:n.*351A>C
ENST00000690282.1:c.-43A>C	ENSP00000509809.1:n.-43A>C
ENST00000690351.1:c.*354A>C	ENSP00000509728.1:n.*354A>C
ENST00000691232.1:c.357A>C	ENSP00000509675.1:p.Glu119Asp
ENST00000691482.1:n.1717A>C
ENST00000691686.1:c.702A>C	ENSP00000509784.1:p.Glu234Asp
ENST00000691851.1:c.702A>C	ENSP00000510106.1:p.Glu234Asp
ENST00000692015.1:c.489A>C	ENSP00000510634.1:p.Glu163Asp
ENST00000692638.1:c.*507A>C	ENSP00000509412.1:n.*507A>C
ENST00000692852.1:c.679-4010A>C	ENSP00000510337.1:n.679-4010A>C
ENST00000692915.1:c.*909A>C	ENSP00000508547.1:n.*909A>C
ENST00000370396.7:c.702A>C MANE Select	ENSP00000359423.3:p.Glu234Asp
ENST00000306167.11:n.569A>C
ENST00000370396.6:c.702A>C	ENSP00000359423.2:p.Glu234Asp
ENST00000490530.1:n.641A>C
NM_000252.2:c.702A>C , LRG_839t1:c.702A>C	NP_000243.1:p.Glu234Asp
XM_005274687.2:c.702A>C	XP_005274744.1:p.Glu234Asp
XM_011531170.1:c.768A>C	XP_011529472.1:p.Glu256Asp
XM_011531171.1:c.747A>C	XP_011529473.1:p.Glu249Asp
XM_011531172.1:c.747A>C	XP_011529474.1:p.Glu249Asp
XM_011531173.1:c.702A>C	XP_011529475.1:p.Glu234Asp
XM_011531173.2:c.702A>C	XP_011529475.1:p.Glu234Asp
XM_017029547.1:c.747A>C	XP_016885036.1:p.Glu249Asp
XM_017029548.1:c.747A>C	XP_016885037.1:p.Glu249Asp
XM_017029549.1:c.702A>C	XP_016885038.1:p.Glu234Asp
XM_017029550.1:c.591A>C	XP_016885039.1:p.Glu197Asp
XM_017029551.2:c.-43A>C	XP_016885040.1:n.-43A>C
NM_000252.3:c.702A>C MANE Select	NP_000243.1:p.Glu234Asp
NM_001376906.1:c.702A>C	NP_001363835.1:p.Glu234Asp
NM_001376907.1:c.591A>C	NP_001363836.1:p.Glu197Asp
NM_001376908.1:c.702A>C	NP_001363837.1:p.Glu234Asp