Canonical Allele Identifier: CA359786123

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1463150926
• gnomAD v2: 5-56177618-A-C
• gnomAD v4: 5-56881791-A-C
• MyVariant Identifiers: chr5:g.56177618A>C (hg19) ; chr5:g.56881791A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881791A>C , CM000667.2:g.56881791A>C	GRCh38
NC_000005.9:g.56177618A>C , CM000667.1:g.56177618A>C	GRCh37
NC_000005.8:g.56213375A>C	NCBI36
NG_031884.1:g.71719A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2591A>C MANE Select	ENSP00000382423.3:p.Glu864Ala
ENST00000399503.3:c.2591A>C	ENSP00000382423.3:p.Glu864Ala
NM_005921.1:c.2591A>C	NP_005912.1:p.Glu864Ala
XM_005248519.3:c.2213A>C	XP_005248576.2:p.Glu738Ala
XM_011543406.1:c.2336A>C	XP_011541708.1:p.Glu779Ala
XM_011543407.1:c.2312A>C	XP_011541709.1:p.Glu771Ala
XM_011543408.1:c.2591A>C	XP_011541710.1:p.Glu864Ala
XM_017009484.1:c.2180A>C	XP_016864973.1:p.Glu727Ala
XM_017009485.1:c.2102A>C	XP_016864974.1:p.Glu701Ala
XR_001742068.2:n.2622A>C
NM_005921.2:c.2591A>C MANE Select	NP_005912.1:p.Glu864Ala