Canonical Allele Identifier: CA6287703
Community Standard Title: NM_001301043.2(CADM1):c.467C>T (p.Ala156Val)
Gene: CADM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.115231448G>A , CM000673.2:g.115231448G>A GRCh38
NC_000011.9:g.115102168G>A , CM000673.1:g.115102168G>A GRCh37
NC_000011.8:g.114607378G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001301043.2:c.467C>T MANE Select NP_001287972.1:p.Ala156Val
ENST00000331581.11:c.467C>T MANE Select ENSP00000329797.6:p.Ala156Val
NM_001098517.1:c.467C>T NP_001091987.1:p.Ala156Val
NM_001098517.2:c.467C>T NP_001091987.1:p.Ala156Val
NM_001301043.1:c.467C>T NP_001287972.1:p.Ala156Val
NM_001301044.1:c.467C>T NP_001287973.1:p.Ala156Val
NM_001301044.2:c.467C>T NP_001287973.1:p.Ala156Val
NM_001301045.1:c.467C>T NP_001287974.1:p.Ala156Val
NM_001301045.2:c.467C>T NP_001287974.1:p.Ala156Val
NM_014333.3:c.467C>T NP_055148.3:p.Ala156Val
NM_014333.4:c.467C>T NP_055148.3:p.Ala156Val
ENST00000331581.10:c.467C>T ENSP00000329797.6:p.Ala156Val
ENST00000452722.7:c.467C>T ENSP00000395359.2:p.Ala156Val
ENST00000536727.5:c.467C>T ENSP00000440322.1:p.Ala156Val
ENST00000537058.5:c.467C>T ENSP00000439817.1:p.Ala156Val
ENST00000537140.5:n.596C>T
ENST00000540951.1:c.*339C>T ENSP00000445375.1:n.*339C>T
ENST00000541434.5:n.467C>T
ENST00000542447.6:c.467C>T ENSP00000439176.1:p.Ala156Val
ENST00000542450.5:c.26C>T ENSP00000442001.1:p.Ala9Val
ENST00000543249.1:c.418C>T
ENST00000543540.5:c.26C>T ENSP00000439847.1:p.Ala9Val
ENST00000545094.5:c.368C>T ENSP00000439696.1:p.Ala123Val
ENST00000545380.5:c.462C>T
ENST00000612235.4:c.344C>T ENSP00000483648.1:p.Ala115Val
ENST00000612471.4:c.344C>T ENSP00000483793.1:p.Ala115Val
ENST00000616271.4:c.344C>T ENSP00000484516.1:p.Ala115Val
ENST00000621043.4:c.344C>T ENSP00000482840.1:p.Ala115Val
ENST00000621709.4:c.344C>T ENSP00000482924.1:p.Ala115Val
XM_005271494.2:c.467C>T XP_005271551.1:p.Ala156Val
XM_005271494.3:c.467C>T XP_005271551.1:p.Ala156Val
XM_017017457.2:c.485C>T XP_016872946.1:p.Ala162Val