Canonical Allele Identifier: CA255672
Gene: MTM1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11060
ClinVar RCV Id: RCV000011809
dbSNP Id: rs132630306
COSMIC: COSM422201

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150641410C>T , CM000685.2:g.150641410C>T GRCh38
NC_000023.10:g.149809883C>T , CM000685.1:g.149809883C>T GRCh37
NC_000023.9:g.149560541C>T NCBI36
NG_008199.1:g.77837C>T , LRG_839:g.77837C>T

Transcript Alleles

HGVS Amino-acid change
NM_000252.2:c.670C>T , LRG_839t1:c.670C>T NP_000243.1:p.Arg224Ter
XM_005274687.2:c.670C>T XP_005274744.1:p.Arg224Ter
XM_011531170.1:c.736C>T XP_011529472.1:p.Arg246Ter
XM_011531171.1:c.715C>T XP_011529473.1:p.Arg239Ter
XM_011531172.1:c.715C>T XP_011529474.1:p.Arg239Ter
XM_011531173.1:c.670C>T XP_011529475.1:p.Arg224Ter
XM_011531173.2:c.670C>T
XM_017029547.1:c.715C>T XP_016885036.1:p.Arg239Ter
XM_017029548.1:c.715C>T XP_016885037.1:p.Arg239Ter
XM_017029549.1:c.670C>T XP_016885038.1:p.Arg224Ter
XM_017029550.1:c.559C>T XP_016885039.1:p.Arg187Ter
XM_017029551.2:c.-75C>T XP_016885040.1:p.=
ENST00000306167.11:n.537C>T
ENST00000370396.6:c.670C>T ENSP00000359423.2:p.Arg224Ter
ENST00000490530.1:n.609C>T