Canonical Allele Identifier: CA359786417

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1159858567
• gnomAD v2: 5-56177719-G-C
• gnomAD v4: 5-56881892-G-C
• MyVariant Identifiers: chr5:g.56177719G>C (hg19) ; chr5:g.56881892G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881892G>C , CM000667.2:g.56881892G>C	GRCh38
NC_000005.9:g.56177719G>C , CM000667.1:g.56177719G>C	GRCh37
NC_000005.8:g.56213476G>C	NCBI36
NG_031884.1:g.71820G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2692G>C MANE Select	ENSP00000382423.3:p.Glu898Gln
ENST00000399503.3:c.2692G>C	ENSP00000382423.3:p.Glu898Gln
NM_005921.1:c.2692G>C	NP_005912.1:p.Glu898Gln
XM_005248519.3:c.2314G>C	XP_005248576.2:p.Glu772Gln
XM_011543406.1:c.2437G>C	XP_011541708.1:p.Glu813Gln
XM_011543407.1:c.2413G>C	XP_011541709.1:p.Glu805Gln
XM_011543408.1:c.2692G>C	XP_011541710.1:p.Glu898Gln
XM_017009484.1:c.2281G>C	XP_016864973.1:p.Glu761Gln
XM_017009485.1:c.2203G>C	XP_016864974.1:p.Glu735Gln
XR_001742068.2:n.2723G>C
NM_005921.2:c.2692G>C MANE Select	NP_005912.1:p.Glu898Gln