Canonical Allele Identifier: CA359785809

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56177470C>G (hg19) ; chr5:g.56881643C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881643C>G , CM000667.2:g.56881643C>G	GRCh38
NC_000005.9:g.56177470C>G , CM000667.1:g.56177470C>G	GRCh37
NC_000005.8:g.56213227C>G	NCBI36
NG_031884.1:g.71571C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2443C>G MANE Select	ENSP00000382423.3:p.Leu815Val
ENST00000399503.3:c.2443C>G	ENSP00000382423.3:p.Leu815Val
NM_005921.1:c.2443C>G	NP_005912.1:p.Leu815Val
XM_005248519.3:c.2065C>G	XP_005248576.2:p.Leu689Val
XM_011543406.1:c.2188C>G	XP_011541708.1:p.Leu730Val
XM_011543407.1:c.2164C>G	XP_011541709.1:p.Leu722Val
XM_011543408.1:c.2443C>G	XP_011541710.1:p.Leu815Val
XM_017009484.1:c.2032C>G	XP_016864973.1:p.Leu678Val
XM_017009485.1:c.1954C>G	XP_016864974.1:p.Leu652Val
XR_001742068.2:n.2474C>G
NM_005921.2:c.2443C>G MANE Select	NP_005912.1:p.Leu815Val