Canonical Allele Identifier: CA359781385

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56171111G>A (hg19) ; chr5:g.56875284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875284G>A , CM000667.2:g.56875284G>A	GRCh38
NC_000005.9:g.56171111G>A , CM000667.1:g.56171111G>A	GRCh37
NC_000005.8:g.56206868G>A	NCBI36
NG_031884.1:g.65212G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1939G>A MANE Select	ENSP00000382423.3:p.Val647Ile
ENST00000399503.3:c.1939G>A	ENSP00000382423.3:p.Val647Ile
NM_005921.1:c.1939G>A	NP_005912.1:p.Val647Ile
XM_005248519.3:c.1561G>A	XP_005248576.2:p.Val521Ile
XM_011543406.1:c.1684G>A	XP_011541708.1:p.Val562Ile
XM_011543407.1:c.1686+2279G>A	XP_011541709.1:n.1686+2279G>A
XM_011543408.1:c.1939G>A	XP_011541710.1:p.Val647Ile
XM_017009484.1:c.1528G>A	XP_016864973.1:p.Val510Ile
XM_017009485.1:c.1450G>A	XP_016864974.1:p.Val484Ile
XR_001742068.2:n.1970G>A
NM_005921.2:c.1939G>A MANE Select	NP_005912.1:p.Val647Ile