Canonical Allele Identifier: CA359802348

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1747446711
• MyVariant Identifiers: chr5:g.56155560G>A (hg19) ; chr5:g.56859733G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859733G>A , CM000667.2:g.56859733G>A	GRCh38
NC_000005.9:g.56155560G>A , CM000667.1:g.56155560G>A	GRCh37
NC_000005.8:g.56191317G>A	NCBI36
NG_031884.1:g.49661G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.652G>A MANE Select	ENSP00000382423.3:p.Val218Ile
ENST00000399503.3:c.652G>A	ENSP00000382423.3:p.Val218Ile
NM_005921.1:c.652G>A	NP_005912.1:p.Val218Ile
XM_005248519.3:c.274G>A	XP_005248576.2:p.Val92Ile
XM_011543406.1:c.397G>A	XP_011541708.1:p.Val133Ile
XM_011543407.1:c.652G>A	XP_011541709.1:p.Val218Ile
XM_011543408.1:c.652G>A	XP_011541710.1:p.Val218Ile
XM_017009484.1:c.241G>A	XP_016864973.1:p.Val81Ile
XM_017009485.1:c.163G>A	XP_016864974.1:p.Val55Ile
XR_001742068.2:n.683G>A
NM_005921.2:c.652G>A MANE Select	NP_005912.1:p.Val218Ile