Canonical Allele Identifier: CA210011
Gene: MAP3K1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 216959
ClinVar RCV Id: RCV000197066
dbSNP Id: rs56160159

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859851C>T , CM000667.2:g.56859851C>T GRCh38
NC_000005.9:g.56155678C>T , CM000667.1:g.56155678C>T GRCh37
NC_000005.8:g.56191435C>T NCBI36
NG_031884.1:g.49779C>T

Transcript Alleles

HGVS Amino-acid change
NM_005921.1:c.770C>T VV NP_005912.1:p.Pro257Leu
XM_005248519.3:c.392C>T XP_005248576.2:p.Pro131Leu
XM_011543406.1:c.515C>T XP_011541708.1:p.Pro172Leu
XM_011543407.1:c.770C>T XP_011541709.1:p.Pro257Leu
XM_011543408.1:c.770C>T XP_011541710.1:p.Pro257Leu
XM_017009484.1:c.359C>T XP_016864973.1:p.Pro120Leu
XM_017009485.1:c.281C>T XP_016864974.1:p.Pro94Leu
XR_001742068.2:n.801C>T
NM_005921.2:c.770C>T VV MANE Preferred NP_005912.1:p.Pro257Leu
ENST00000399503.3:n.770C>T ENSP00000382423.3:p.Pro257Leu