Canonical Allele Identifier: CA359787606

Gene: MAP3K1

Linked Data

• dbSNP Id: rs376073926
• MyVariant Identifiers: chr5:g.56178106C>G (hg19) ; chr5:g.56882279C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882279C>G , CM000667.2:g.56882279C>G	GRCh38
NC_000005.9:g.56178106C>G , CM000667.1:g.56178106C>G	GRCh37
NC_000005.8:g.56213863C>G	NCBI36
NG_031884.1:g.72207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3079C>G MANE Select	ENSP00000382423.3:p.Leu1027Val
ENST00000399503.3:c.3079C>G	ENSP00000382423.3:p.Leu1027Val
NM_005921.1:c.3079C>G	NP_005912.1:p.Leu1027Val
XM_005248519.3:c.2701C>G	XP_005248576.2:p.Leu901Val
XM_011543406.1:c.2824C>G	XP_011541708.1:p.Leu942Val
XM_011543407.1:c.2800C>G	XP_011541709.1:p.Leu934Val
XM_011543408.1:c.3079C>G	XP_011541710.1:p.Leu1027Val
XM_017009484.1:c.2668C>G	XP_016864973.1:p.Leu890Val
XM_017009485.1:c.2590C>G	XP_016864974.1:p.Leu864Val
XR_001742068.2:n.3110C>G
NM_005921.2:c.3079C>G MANE Select	NP_005912.1:p.Leu1027Val