Canonical Allele Identifier: CA271925

Gene: MTM1

Linked Data

• ClinVar Variation Id: 158996
• ClinVar RCV Id: RCV000146475
• dbSNP Id: rs587783849
• MyVariant Identifiers: chrX:g.149809892G>A (hg19) ; chrX:g.150641419G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641419G>A , CM000685.2:g.150641419G>A	GRCh38
NC_000023.10:g.149809892G>A , CM000685.1:g.149809892G>A	GRCh37
NC_000023.9:g.149560550G>A	NCBI36
NG_008199.1:g.77846G>A , LRG_839:g.77846G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*211+1G>A	ENSP00000509844.1:n.*211+1G>A
ENST00000685439.1:c.333+1G>A	ENSP00000508454.1:n.333+1G>A
ENST00000685944.1:c.678+1G>A	ENSP00000509266.1:n.678+1G>A
ENST00000686212.1:n.280+1G>A
ENST00000687215.1:c.*433+1G>A	ENSP00000509706.1:n.*433+1G>A
ENST00000688152.1:c.*122+1G>A	ENSP00000509360.1:n.*122+1G>A
ENST00000688403.1:c.-67+1G>A	ENSP00000508944.1:n.-67+1G>A
ENST00000689314.1:c.723+1G>A	ENSP00000510607.1:n.723+1G>A
ENST00000689694.1:c.678+1G>A	ENSP00000508718.1:n.678+1G>A
ENST00000689810.1:c.*327+1G>A	ENSP00000510635.1:n.*327+1G>A
ENST00000690282.1:c.-67+1G>A	ENSP00000509809.1:n.-67+1G>A
ENST00000690351.1:c.*330+1G>A	ENSP00000509728.1:n.*330+1G>A
ENST00000691232.1:c.333+1G>A	ENSP00000509675.1:n.333+1G>A
ENST00000691482.1:n.1693+1G>A
ENST00000691686.1:c.678+1G>A	ENSP00000509784.1:n.678+1G>A
ENST00000691851.1:c.678+1G>A	ENSP00000510106.1:n.678+1G>A
ENST00000692015.1:c.465+1G>A	ENSP00000510634.1:n.465+1G>A
ENST00000692638.1:c.*483+1G>A	ENSP00000509412.1:n.*483+1G>A
ENST00000692852.1:c.678+1G>A	ENSP00000510337.1:n.678+1G>A
ENST00000692915.1:c.*885+1G>A	ENSP00000508547.1:n.*885+1G>A
ENST00000370396.7:c.678+1G>A MANE Select	ENSP00000359423.3:n.678+1G>A
ENST00000306167.11:n.545+1G>A
ENST00000370396.6:c.678+1G>A	ENSP00000359423.2:n.678+1G>A
ENST00000490530.1:n.617+1G>A
NM_000252.2:c.678+1G>A , LRG_839t1:c.678+1G>A	NP_000243.1:n.678+1G>A
XM_005274687.2:c.678+1G>A	XP_005274744.1:n.678+1G>A
XM_011531170.1:c.744+1G>A	XP_011529472.1:n.744+1G>A
XM_011531171.1:c.723+1G>A	XP_011529473.1:n.723+1G>A
XM_011531172.1:c.723+1G>A	XP_011529474.1:n.723+1G>A
XM_011531173.1:c.678+1G>A	XP_011529475.1:n.678+1G>A
XM_011531173.2:c.678+1G>A	XP_011529475.1:n.678+1G>A
XM_017029547.1:c.723+1G>A	XP_016885036.1:n.723+1G>A
XM_017029548.1:c.723+1G>A	XP_016885037.1:n.723+1G>A
XM_017029549.1:c.678+1G>A	XP_016885038.1:n.678+1G>A
XM_017029550.1:c.567+1G>A	XP_016885039.1:n.567+1G>A
XM_017029551.2:c.-67+1G>A	XP_016885040.1:n.-67+1G>A
NM_000252.3:c.678+1G>A MANE Select	NP_000243.1:n.678+1G>A
NM_001376906.1:c.678+1G>A	NP_001363835.1:n.678+1G>A
NM_001376907.1:c.567+1G>A	NP_001363836.1:n.567+1G>A
NM_001376908.1:c.678+1G>A	NP_001363837.1:n.678+1G>A