Canonical Allele Identifier: CA359785762

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56177448T>G (hg19) ; chr5:g.56881621T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881621T>G , CM000667.2:g.56881621T>G	GRCh38
NC_000005.9:g.56177448T>G , CM000667.1:g.56177448T>G	GRCh37
NC_000005.8:g.56213205T>G	NCBI36
NG_031884.1:g.71549T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.2421T>G MANE Select	ENSP00000382423.3:p.Asn807Lys
ENST00000399503.3:c.2421T>G	ENSP00000382423.3:p.Asn807Lys
NM_005921.1:c.2421T>G	NP_005912.1:p.Asn807Lys
XM_005248519.3:c.2043T>G	XP_005248576.2:p.Asn681Lys
XM_011543406.1:c.2166T>G	XP_011541708.1:p.Asn722Lys
XM_011543407.1:c.2142T>G	XP_011541709.1:p.Asn714Lys
XM_011543408.1:c.2421T>G	XP_011541710.1:p.Asn807Lys
XM_017009484.1:c.2010T>G	XP_016864973.1:p.Asn670Lys
XM_017009485.1:c.1932T>G	XP_016864974.1:p.Asn644Lys
XR_001742068.2:n.2452T>G
NM_005921.2:c.2421T>G MANE Select	NP_005912.1:p.Asn807Lys