Canonical Allele Identifier: CA119079685

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1029956332
• gnomAD v2: 5-56177870-C-A
• MyVariant Identifiers: chr5:g.56177870C>A (hg19) ; chr5:g.56177870_56177872delinsAAA (hg19) ; chr5:g.56882043C>A (hg38) ; chr5:g.56882043_56882045delinsAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882043C>A , CM000667.2:g.56882043C>A	GRCh38
NC_000005.9:g.56177870C>A , CM000667.1:g.56177870C>A	GRCh37
NC_000005.8:g.56213627C>A	NCBI36
NG_031884.1:g.71971C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2843C>A MANE Select	ENSP00000382423.3:p.Thr948Lys
ENST00000399503.3:c.2843C>A	ENSP00000382423.3:p.Thr948Lys
NM_005921.1:c.2843C>A	NP_005912.1:p.Thr948Lys
XM_005248519.3:c.2465C>A	XP_005248576.2:p.Thr822Lys
XM_011543406.1:c.2588C>A	XP_011541708.1:p.Thr863Lys
XM_011543407.1:c.2564C>A	XP_011541709.1:p.Thr855Lys
XM_011543408.1:c.2843C>A	XP_011541710.1:p.Thr948Lys
XM_017009484.1:c.2432C>A	XP_016864973.1:p.Thr811Lys
XM_017009485.1:c.2354C>A	XP_016864974.1:p.Thr785Lys
XR_001742068.2:n.2874C>A
NM_005921.2:c.2843C>A MANE Select	NP_005912.1:p.Thr948Lys