Canonical Allele Identifier: CA444399133

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881723-G-A
• MyVariant Identifiers: chr5:g.56177550G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881723G>A , CM000667.2:g.56881723G>A	GRCh38
NC_000005.9:g.56177550G>A , CM000667.1:g.56177550G>A	GRCh37
NC_000005.8:g.56213307G>A	NCBI36
NG_031884.1:g.71651G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2523G>A MANE Select	ENSP00000382423.3:p.Leu841=
ENST00000399503.3:c.2523G>A	ENSP00000382423.3:p.Leu841=
NM_005921.1:c.2523G>A	NP_005912.1:p.Leu841=
XM_005248519.3:c.2145G>A	XP_005248576.2:p.Leu715=
XM_011543406.1:c.2268G>A	XP_011541708.1:p.Leu756=
XM_011543407.1:c.2244G>A	XP_011541709.1:p.Leu748=
XM_011543408.1:c.2523G>A	XP_011541710.1:p.Leu841=
XM_017009484.1:c.2112G>A	XP_016864973.1:p.Leu704=
XM_017009485.1:c.2034G>A	XP_016864974.1:p.Leu678=
XR_001742068.2:n.2554G>A
NM_005921.2:c.2523G>A MANE Select	NP_005912.1:p.Leu841=