Canonical Allele Identifier: CA3273028

Gene: MAP3K1

Linked Data

• dbSNP Id: rs530669321
• ExAC: 5:56177626 G / A
• gnomAD v2: 5-56177626-G-A
• gnomAD v3: 5-56881799-G-A
• gnomAD v4: 5-56881799-G-A
• MyVariant Identifiers: chr5:g.56177626G>A (hg19) ; chr5:g.56881799G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881799G>A , CM000667.2:g.56881799G>A	GRCh38
NC_000005.9:g.56177626G>A , CM000667.1:g.56177626G>A	GRCh37
NC_000005.8:g.56213383G>A	NCBI36
NG_031884.1:g.71727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2599G>A MANE Select	ENSP00000382423.3:p.Glu867Lys
ENST00000399503.3:c.2599G>A	ENSP00000382423.3:p.Glu867Lys
NM_005921.1:c.2599G>A	NP_005912.1:p.Glu867Lys
XM_005248519.3:c.2221G>A	XP_005248576.2:p.Glu741Lys
XM_011543406.1:c.2344G>A	XP_011541708.1:p.Glu782Lys
XM_011543407.1:c.2320G>A	XP_011541709.1:p.Glu774Lys
XM_011543408.1:c.2599G>A	XP_011541710.1:p.Glu867Lys
XM_017009484.1:c.2188G>A	XP_016864973.1:p.Glu730Lys
XM_017009485.1:c.2110G>A	XP_016864974.1:p.Glu704Lys
XR_001742068.2:n.2630G>A
NM_005921.2:c.2599G>A MANE Select	NP_005912.1:p.Glu867Lys