Canonical Allele Identifier: CA359787550

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1294169226
• gnomAD v2: 5-56178079-T-C
• gnomAD v4: 5-56882252-T-C
• MyVariant Identifiers: chr5:g.56178079T>C (hg19) ; chr5:g.56882252T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882252T>C , CM000667.2:g.56882252T>C	GRCh38
NC_000005.9:g.56178079T>C , CM000667.1:g.56178079T>C	GRCh37
NC_000005.8:g.56213836T>C	NCBI36
NG_031884.1:g.72180T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3052T>C MANE Select	ENSP00000382423.3:p.Ser1018Pro
ENST00000399503.3:c.3052T>C	ENSP00000382423.3:p.Ser1018Pro
NM_005921.1:c.3052T>C	NP_005912.1:p.Ser1018Pro
XM_005248519.3:c.2674T>C	XP_005248576.2:p.Ser892Pro
XM_011543406.1:c.2797T>C	XP_011541708.1:p.Ser933Pro
XM_011543407.1:c.2773T>C	XP_011541709.1:p.Ser925Pro
XM_011543408.1:c.3052T>C	XP_011541710.1:p.Ser1018Pro
XM_017009484.1:c.2641T>C	XP_016864973.1:p.Ser881Pro
XM_017009485.1:c.2563T>C	XP_016864974.1:p.Ser855Pro
XR_001742068.2:n.3083T>C
NM_005921.2:c.3052T>C MANE Select	NP_005912.1:p.Ser1018Pro