Canonical Allele Identifier: CA359785686

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881587-C-A
• MyVariant Identifiers: chr5:g.56177414C>A (hg19) ; chr5:g.56881587C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881587C>A , CM000667.2:g.56881587C>A	GRCh38
NC_000005.9:g.56177414C>A , CM000667.1:g.56177414C>A	GRCh37
NC_000005.8:g.56213171C>A	NCBI36
NG_031884.1:g.71515C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2387C>A MANE Select	ENSP00000382423.3:p.Ser796Tyr
ENST00000399503.3:c.2387C>A	ENSP00000382423.3:p.Ser796Tyr
NM_005921.1:c.2387C>A	NP_005912.1:p.Ser796Tyr
XM_005248519.3:c.2009C>A	XP_005248576.2:p.Ser670Tyr
XM_011543406.1:c.2132C>A	XP_011541708.1:p.Ser711Tyr
XM_011543407.1:c.2108C>A	XP_011541709.1:p.Ser703Tyr
XM_011543408.1:c.2387C>A	XP_011541710.1:p.Ser796Tyr
XM_017009484.1:c.1976C>A	XP_016864973.1:p.Ser659Tyr
XM_017009485.1:c.1898C>A	XP_016864974.1:p.Ser633Tyr
XR_001742068.2:n.2418C>A
NM_005921.2:c.2387C>A MANE Select	NP_005912.1:p.Ser796Tyr