Canonical Allele Identifier: CA2573159345

Gene: MTM1

Linked Data

• ClinVar Variation Id: 1635490
• ClinVar RCV Id: RCV002133474
• dbSNP Id: rs2148488635

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641425A>G , CM000685.2:g.150641425A>G	GRCh38
NC_000023.10:g.149809898A>G , CM000685.1:g.149809898A>G	GRCh37
NC_000023.9:g.149560556A>G	NCBI36
NG_008199.1:g.77852A>G , LRG_839:g.77852A>G

Transcript Alleles

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