Canonical Allele Identifier: CA359785724

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56177432T>G (hg19) ; chr5:g.56881605T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881605T>G , CM000667.2:g.56881605T>G	GRCh38
NC_000005.9:g.56177432T>G , CM000667.1:g.56177432T>G	GRCh37
NC_000005.8:g.56213189T>G	NCBI36
NG_031884.1:g.71533T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2405T>G MANE Select	ENSP00000382423.3:p.Leu802Trp
ENST00000399503.3:c.2405T>G	ENSP00000382423.3:p.Leu802Trp
NM_005921.1:c.2405T>G	NP_005912.1:p.Leu802Trp
XM_005248519.3:c.2027T>G	XP_005248576.2:p.Leu676Trp
XM_011543406.1:c.2150T>G	XP_011541708.1:p.Leu717Trp
XM_011543407.1:c.2126T>G	XP_011541709.1:p.Leu709Trp
XM_011543408.1:c.2405T>G	XP_011541710.1:p.Leu802Trp
XM_017009484.1:c.1994T>G	XP_016864973.1:p.Leu665Trp
XM_017009485.1:c.1916T>G	XP_016864974.1:p.Leu639Trp
XR_001742068.2:n.2436T>G
NM_005921.2:c.2405T>G MANE Select	NP_005912.1:p.Leu802Trp