Canonical Allele Identifier: CA10602647
Gene: MAP3K1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 268092
ClinVar RCV Id: RCV000258799
dbSNP Id: rs886041049

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56875268G>A , CM000667.2:g.56875268G>A GRCh38
NC_000005.9:g.56171095G>A , CM000667.1:g.56171095G>A GRCh37
NC_000005.8:g.56206852G>A NCBI36
NG_031884.1:g.65196G>A

Transcript Alleles

HGVS Amino-acid change
NM_005921.1:c.1923G>A VV NP_005912.1:p.Met641Ile
XM_005248519.3:c.1545G>A XP_005248576.2:p.Met515Ile
XM_011543406.1:c.1668G>A XP_011541708.1:p.Met556Ile
XM_011543407.1:c.1686+2263G>A XP_011541709.1:p.=
XM_011543408.1:c.1923G>A XP_011541710.1:p.Met641Ile
XM_017009484.1:c.1512G>A XP_016864973.1:p.Met504Ile
XM_017009485.1:c.1434G>A XP_016864974.1:p.Met478Ile
XR_001742068.2:n.1954G>A
NM_005921.2:c.1923G>A VV MANE Preferred NP_005912.1:p.Met641Ile
ENST00000399503.3:n.1923G>A ENSP00000382423.3:p.Met641Ile