Canonical Allele Identifier: CA359785903

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111941308
• MyVariant Identifiers: chr5:g.56177515G>C (hg19) ; chr5:g.56881688G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881688G>C , CM000667.2:g.56881688G>C	GRCh38
NC_000005.9:g.56177515G>C , CM000667.1:g.56177515G>C	GRCh37
NC_000005.8:g.56213272G>C	NCBI36
NG_031884.1:g.71616G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2488G>C MANE Select	ENSP00000382423.3:p.Val830Leu
ENST00000399503.3:c.2488G>C	ENSP00000382423.3:p.Val830Leu
NM_005921.1:c.2488G>C	NP_005912.1:p.Val830Leu
XM_005248519.3:c.2110G>C	XP_005248576.2:p.Val704Leu
XM_011543406.1:c.2233G>C	XP_011541708.1:p.Val745Leu
XM_011543407.1:c.2209G>C	XP_011541709.1:p.Val737Leu
XM_011543408.1:c.2488G>C	XP_011541710.1:p.Val830Leu
XM_017009484.1:c.2077G>C	XP_016864973.1:p.Val693Leu
XM_017009485.1:c.1999G>C	XP_016864974.1:p.Val667Leu
XR_001742068.2:n.2519G>C
NM_005921.2:c.2488G>C MANE Select	NP_005912.1:p.Val830Leu