Canonical Allele Identifier: CA359786068

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56177593T>G (hg19) ; chr5:g.56881766T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881766T>G , CM000667.2:g.56881766T>G	GRCh38
NC_000005.9:g.56177593T>G , CM000667.1:g.56177593T>G	GRCh37
NC_000005.8:g.56213350T>G	NCBI36
NG_031884.1:g.71694T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2566T>G MANE Select	ENSP00000382423.3:p.Leu856Val
ENST00000399503.3:c.2566T>G	ENSP00000382423.3:p.Leu856Val
NM_005921.1:c.2566T>G	NP_005912.1:p.Leu856Val
XM_005248519.3:c.2188T>G	XP_005248576.2:p.Leu730Val
XM_011543406.1:c.2311T>G	XP_011541708.1:p.Leu771Val
XM_011543407.1:c.2287T>G	XP_011541709.1:p.Leu763Val
XM_011543408.1:c.2566T>G	XP_011541710.1:p.Leu856Val
XM_017009484.1:c.2155T>G	XP_016864973.1:p.Leu719Val
XM_017009485.1:c.2077T>G	XP_016864974.1:p.Leu693Val
XR_001742068.2:n.2597T>G
NM_005921.2:c.2566T>G MANE Select	NP_005912.1:p.Leu856Val