Canonical Allele Identifier: CA415256333

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149814178A>C (hg19) ; chrX:g.150645705A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150645705A>C , CM000685.2:g.150645705A>C	GRCh38
NC_000023.10:g.149814178A>C , CM000685.1:g.149814178A>C	GRCh37
NC_000023.9:g.149564836A>C	NCBI36
NG_008199.1:g.82132A>C , LRG_839:g.82132A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*234A>C	ENSP00000509844.1:n.*234A>C
ENST00000685439.1:c.356A>C	ENSP00000508454.1:p.Glu119Ala
ENST00000685944.1:c.701A>C	ENSP00000509266.1:p.Glu234Ala
ENST00000686212.1:n.303A>C
ENST00000687215.1:c.*456A>C	ENSP00000509706.1:n.*456A>C
ENST00000688152.1:c.*145A>C	ENSP00000509360.1:n.*145A>C
ENST00000688403.1:c.-44A>C	ENSP00000508944.1:n.-44A>C
ENST00000689314.1:c.746A>C	ENSP00000510607.1:p.Glu249Ala
ENST00000689694.1:c.701A>C	ENSP00000508718.1:p.Glu234Ala
ENST00000689810.1:c.*350A>C	ENSP00000510635.1:n.*350A>C
ENST00000690282.1:c.-44A>C	ENSP00000509809.1:n.-44A>C
ENST00000690351.1:c.*353A>C	ENSP00000509728.1:n.*353A>C
ENST00000691232.1:c.356A>C	ENSP00000509675.1:p.Glu119Ala
ENST00000691482.1:n.1716A>C
ENST00000691686.1:c.701A>C	ENSP00000509784.1:p.Glu234Ala
ENST00000691851.1:c.701A>C	ENSP00000510106.1:p.Glu234Ala
ENST00000692015.1:c.488A>C	ENSP00000510634.1:p.Glu163Ala
ENST00000692638.1:c.*506A>C	ENSP00000509412.1:n.*506A>C
ENST00000692852.1:c.679-4011A>C	ENSP00000510337.1:n.679-4011A>C
ENST00000692915.1:c.*908A>C	ENSP00000508547.1:n.*908A>C
ENST00000370396.7:c.701A>C MANE Select	ENSP00000359423.3:p.Glu234Ala
ENST00000306167.11:n.568A>C
ENST00000370396.6:c.701A>C	ENSP00000359423.2:p.Glu234Ala
ENST00000490530.1:n.640A>C
NM_000252.2:c.701A>C , LRG_839t1:c.701A>C	NP_000243.1:p.Glu234Ala
XM_005274687.2:c.701A>C	XP_005274744.1:p.Glu234Ala
XM_011531170.1:c.767A>C	XP_011529472.1:p.Glu256Ala
XM_011531171.1:c.746A>C	XP_011529473.1:p.Glu249Ala
XM_011531172.1:c.746A>C	XP_011529474.1:p.Glu249Ala
XM_011531173.1:c.701A>C	XP_011529475.1:p.Glu234Ala
XM_011531173.2:c.701A>C	XP_011529475.1:p.Glu234Ala
XM_017029547.1:c.746A>C	XP_016885036.1:p.Glu249Ala
XM_017029548.1:c.746A>C	XP_016885037.1:p.Glu249Ala
XM_017029549.1:c.701A>C	XP_016885038.1:p.Glu234Ala
XM_017029550.1:c.590A>C	XP_016885039.1:p.Glu197Ala
XM_017029551.2:c.-44A>C	XP_016885040.1:n.-44A>C
NM_000252.3:c.701A>C MANE Select	NP_000243.1:p.Glu234Ala
NM_001376906.1:c.701A>C	NP_001363835.1:p.Glu234Ala
NM_001376907.1:c.590A>C	NP_001363836.1:p.Glu197Ala
NM_001376908.1:c.701A>C	NP_001363837.1:p.Glu234Ala