Canonical Allele Identifier: CA359787069

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1458478144
• gnomAD v2: 5-56177932-T-C
• gnomAD v3: 5-56882105-T-C
• gnomAD v4: 5-56882105-T-C
• MyVariant Identifiers: chr5:g.56177932T>C (hg19) ; chr5:g.56882105T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882105T>C , CM000667.2:g.56882105T>C	GRCh38
NC_000005.9:g.56177932T>C , CM000667.1:g.56177932T>C	GRCh37
NC_000005.8:g.56213689T>C	NCBI36
NG_031884.1:g.72033T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.2905T>C MANE Select	ENSP00000382423.3:p.Ser969Pro
ENST00000399503.3:c.2905T>C	ENSP00000382423.3:p.Ser969Pro
NM_005921.1:c.2905T>C	NP_005912.1:p.Ser969Pro
XM_005248519.3:c.2527T>C	XP_005248576.2:p.Ser843Pro
XM_011543406.1:c.2650T>C	XP_011541708.1:p.Ser884Pro
XM_011543407.1:c.2626T>C	XP_011541709.1:p.Ser876Pro
XM_011543408.1:c.2905T>C	XP_011541710.1:p.Ser969Pro
XM_017009484.1:c.2494T>C	XP_016864973.1:p.Ser832Pro
XM_017009485.1:c.2416T>C	XP_016864974.1:p.Ser806Pro
XR_001742068.2:n.2936T>C
NM_005921.2:c.2905T>C MANE Select	NP_005912.1:p.Ser969Pro