Canonical Allele Identifier: CA359785759

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 2788949
• ClinVar RCV Id: RCV003641225
• gnomAD v4: 5-56881620-A-G
• MyVariant Identifiers: chr5:g.56177447A>G (hg19) ; chr5:g.56881620A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881620A>G , CM000667.2:g.56881620A>G	GRCh38
NC_000005.9:g.56177447A>G , CM000667.1:g.56177447A>G	GRCh37
NC_000005.8:g.56213204A>G	NCBI36
NG_031884.1:g.71548A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.2420A>G MANE Select	ENSP00000382423.3:p.Asn807Ser
ENST00000399503.3:c.2420A>G	ENSP00000382423.3:p.Asn807Ser
NM_005921.1:c.2420A>G	NP_005912.1:p.Asn807Ser
XM_005248519.3:c.2042A>G	XP_005248576.2:p.Asn681Ser
XM_011543406.1:c.2165A>G	XP_011541708.1:p.Asn722Ser
XM_011543407.1:c.2141A>G	XP_011541709.1:p.Asn714Ser
XM_011543408.1:c.2420A>G	XP_011541710.1:p.Asn807Ser
XM_017009484.1:c.2009A>G	XP_016864973.1:p.Asn670Ser
XM_017009485.1:c.1931A>G	XP_016864974.1:p.Asn644Ser
XR_001742068.2:n.2451A>G
NM_005921.2:c.2420A>G MANE Select	NP_005912.1:p.Asn807Ser