Canonical Allele Identifier: CA359781369

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56171105G>C (hg19) ; chr5:g.56875278G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875278G>C , CM000667.2:g.56875278G>C	GRCh38
NC_000005.9:g.56171105G>C , CM000667.1:g.56171105G>C	GRCh37
NC_000005.8:g.56206862G>C	NCBI36
NG_031884.1:g.65206G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1933G>C MANE Select	ENSP00000382423.3:p.Asp645His
ENST00000399503.3:c.1933G>C	ENSP00000382423.3:p.Asp645His
NM_005921.1:c.1933G>C	NP_005912.1:p.Asp645His
XM_005248519.3:c.1555G>C	XP_005248576.2:p.Asp519His
XM_011543406.1:c.1678G>C	XP_011541708.1:p.Asp560His
XM_011543407.1:c.1686+2273G>C	XP_011541709.1:n.1686+2273G>C
XM_011543408.1:c.1933G>C	XP_011541710.1:p.Asp645His
XM_017009484.1:c.1522G>C	XP_016864973.1:p.Asp508His
XM_017009485.1:c.1444G>C	XP_016864974.1:p.Asp482His
XR_001742068.2:n.1964G>C
NM_005921.2:c.1933G>C MANE Select	NP_005912.1:p.Asp645His