Canonical Allele Identifier: CA359802416

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155590T>G (hg19) ; chr5:g.56859763T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859763T>G , CM000667.2:g.56859763T>G	GRCh38
NC_000005.9:g.56155590T>G , CM000667.1:g.56155590T>G	GRCh37
NC_000005.8:g.56191347T>G	NCBI36
NG_031884.1:g.49691T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.682T>G MANE Select	ENSP00000382423.3:p.Leu228Val
ENST00000399503.3:c.682T>G	ENSP00000382423.3:p.Leu228Val
NM_005921.1:c.682T>G	NP_005912.1:p.Leu228Val
XM_005248519.3:c.304T>G	XP_005248576.2:p.Leu102Val
XM_011543406.1:c.427T>G	XP_011541708.1:p.Leu143Val
XM_011543407.1:c.682T>G	XP_011541709.1:p.Leu228Val
XM_011543408.1:c.682T>G	XP_011541710.1:p.Leu228Val
XM_017009484.1:c.271T>G	XP_016864973.1:p.Leu91Val
XM_017009485.1:c.193T>G	XP_016864974.1:p.Leu65Val
XR_001742068.2:n.713T>G
NM_005921.2:c.682T>G MANE Select	NP_005912.1:p.Leu228Val