Canonical Allele Identifier: CA359787717

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1345704990
• gnomAD v2: 5-56178154-T-C
• gnomAD v3: 5-56882327-T-C
• gnomAD v4: 5-56882327-T-C
• MyVariant Identifiers: chr5:g.56178154T>C (hg19) ; chr5:g.56882327T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882327T>C , CM000667.2:g.56882327T>C	GRCh38
NC_000005.9:g.56178154T>C , CM000667.1:g.56178154T>C	GRCh37
NC_000005.8:g.56213911T>C	NCBI36
NG_031884.1:g.72255T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3127T>C MANE Select	ENSP00000382423.3:p.Ser1043Pro
ENST00000399503.3:c.3127T>C	ENSP00000382423.3:p.Ser1043Pro
NM_005921.1:c.3127T>C	NP_005912.1:p.Ser1043Pro
XM_005248519.3:c.2749T>C	XP_005248576.2:p.Ser917Pro
XM_011543406.1:c.2872T>C	XP_011541708.1:p.Ser958Pro
XM_011543407.1:c.2848T>C	XP_011541709.1:p.Ser950Pro
XM_011543408.1:c.3127T>C	XP_011541710.1:p.Ser1043Pro
XM_017009484.1:c.2716T>C	XP_016864973.1:p.Ser906Pro
XM_017009485.1:c.2638T>C	XP_016864974.1:p.Ser880Pro
XR_001742068.2:n.3158T>C
NM_005921.2:c.3127T>C MANE Select	NP_005912.1:p.Ser1043Pro