Canonical Allele Identifier: CA118558
Gene: MAD1L1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6920
ClinVar RCV Id: RCV000007329
dbSNP Id: rs121908982

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2225526G>A , CM000669.2:g.2225526G>A GRCh38
NC_000007.12:g.2231687G>A NCBI36
NC_000007.13:g.2265161G>A , CM000669.1:g.2265161G>A GRCh37
NG_011518.1:g.12423C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265854.11:c.175C>T ENSP00000265854.7:p.Arg59Cys
ENST00000399654.6:c.175C>T ENSP00000382562.2:p.Arg59Cys
ENST00000402746.5:c.-124-2772C>T ENSP00000384155.1:p.=
ENST00000406869.5:c.175C>T ENSP00000385334.1:p.Arg59Cys
ENST00000429625.5:c.-39C>T ENSP00000413139.1:p.=
ENST00000429779.1:c.175C>T ENSP00000395457.1:p.Arg59Cys
ENST00000455998.5:c.151-2772C>T ENSP00000390099.1:p.=
NM_001013836.1:c.175C>T VV NP_001013858.1:p.Arg59Cys
NM_001013837.1:c.175C>T VV NP_001013859.1:p.Arg59Cys
NM_001304523.1:c.175C>T VV NP_001291452.1:p.Arg59Cys
NM_001304524.1:c.-124-2772C>T VV NP_001291453.1:p.=
NM_003550.2:c.175C>T VV NP_003541.2:p.Arg59Cys
XM_005249877.1:c.151-2772C>T XP_005249934.1:p.=
XM_011515567.1:c.175C>T XP_011513869.1:p.Arg59Cys
XM_011515568.1:c.175C>T XP_011513870.1:p.Arg59Cys
XM_011515570.1:c.175C>T XP_011513872.1:p.Arg59Cys