Canonical Allele Identifier: CA3273132

Gene: MAP3K1

Linked Data

• dbSNP Id: rs780012235
• ExAC: 5:56178218 G / A
• gnomAD v2: 5-56178218-G-A
• gnomAD v3: 5-56882391-G-A
• gnomAD v4: 5-56882391-G-A
• MyVariant Identifiers: chr5:g.56178218G>A (hg19) ; chr5:g.56882391G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882391G>A , CM000667.2:g.56882391G>A	GRCh38
NC_000005.9:g.56178218G>A , CM000667.1:g.56178218G>A	GRCh37
NC_000005.8:g.56213975G>A	NCBI36
NG_031884.1:g.72319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3191G>A MANE Select	ENSP00000382423.3:p.Arg1064Lys
ENST00000399503.3:c.3191G>A	ENSP00000382423.3:p.Arg1064Lys
NM_005921.1:c.3191G>A	NP_005912.1:p.Arg1064Lys
XM_005248519.3:c.2813G>A	XP_005248576.2:p.Arg938Lys
XM_011543406.1:c.2936G>A	XP_011541708.1:p.Arg979Lys
XM_011543407.1:c.2912G>A	XP_011541709.1:p.Arg971Lys
XM_011543408.1:c.3191G>A	XP_011541710.1:p.Arg1064Lys
XM_017009484.1:c.2780G>A	XP_016864973.1:p.Arg927Lys
XM_017009485.1:c.2702G>A	XP_016864974.1:p.Arg901Lys
XR_001742068.2:n.3222G>A
NM_005921.2:c.3191G>A MANE Select	NP_005912.1:p.Arg1064Lys