Canonical Allele Identifier: CA359786280

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1748220081
• gnomAD v3: 5-56881860-C-T
• gnomAD v4: 5-56881860-C-T
• MyVariant Identifiers: chr5:g.56177687C>T (hg19) ; chr5:g.56881860C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881860C>T , CM000667.2:g.56881860C>T	GRCh38
NC_000005.9:g.56177687C>T , CM000667.1:g.56177687C>T	GRCh37
NC_000005.8:g.56213444C>T	NCBI36
NG_031884.1:g.71788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2660C>T MANE Select	ENSP00000382423.3:p.Ala887Val
ENST00000399503.3:c.2660C>T	ENSP00000382423.3:p.Ala887Val
NM_005921.1:c.2660C>T	NP_005912.1:p.Ala887Val
XM_005248519.3:c.2282C>T	XP_005248576.2:p.Ala761Val
XM_011543406.1:c.2405C>T	XP_011541708.1:p.Ala802Val
XM_011543407.1:c.2381C>T	XP_011541709.1:p.Ala794Val
XM_011543408.1:c.2660C>T	XP_011541710.1:p.Ala887Val
XM_017009484.1:c.2249C>T	XP_016864973.1:p.Ala750Val
XM_017009485.1:c.2171C>T	XP_016864974.1:p.Ala724Val
XR_001742068.2:n.2691C>T
NM_005921.2:c.2660C>T MANE Select	NP_005912.1:p.Ala887Val