Canonical Allele Identifier: CA359781094

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56171039T>G (hg19) ; chr5:g.56875212T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875212T>G , CM000667.2:g.56875212T>G	GRCh38
NC_000005.9:g.56171039T>G , CM000667.1:g.56171039T>G	GRCh37
NC_000005.8:g.56206796T>G	NCBI36
NG_031884.1:g.65140T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1867T>G MANE Select	ENSP00000382423.3:p.Ser623Ala
ENST00000399503.3:c.1867T>G	ENSP00000382423.3:p.Ser623Ala
NM_005921.1:c.1867T>G	NP_005912.1:p.Ser623Ala
XM_005248519.3:c.1489T>G	XP_005248576.2:p.Ser497Ala
XM_011543406.1:c.1612T>G	XP_011541708.1:p.Ser538Ala
XM_011543407.1:c.1686+2207T>G	XP_011541709.1:n.1686+2207T>G
XM_011543408.1:c.1867T>G	XP_011541710.1:p.Ser623Ala
XM_017009484.1:c.1456T>G	XP_016864973.1:p.Ser486Ala
XM_017009485.1:c.1378T>G	XP_016864974.1:p.Ser460Ala
XR_001742068.2:n.1898T>G
NM_005921.2:c.1867T>G MANE Select	NP_005912.1:p.Ser623Ala