Canonical Allele Identifier: CA359787600

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1209833340
• gnomAD v3: 5-56882276-T-C
• gnomAD v4: 5-56882276-T-C
• MyVariant Identifiers: chr5:g.56178103T>C (hg19) ; chr5:g.56882276T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882276T>C , CM000667.2:g.56882276T>C	GRCh38
NC_000005.9:g.56178103T>C , CM000667.1:g.56178103T>C	GRCh37
NC_000005.8:g.56213860T>C	NCBI36
NG_031884.1:g.72204T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3076T>C MANE Select	ENSP00000382423.3:p.Ser1026Pro
ENST00000399503.3:c.3076T>C	ENSP00000382423.3:p.Ser1026Pro
NM_005921.1:c.3076T>C	NP_005912.1:p.Ser1026Pro
XM_005248519.3:c.2698T>C	XP_005248576.2:p.Ser900Pro
XM_011543406.1:c.2821T>C	XP_011541708.1:p.Ser941Pro
XM_011543407.1:c.2797T>C	XP_011541709.1:p.Ser933Pro
XM_011543408.1:c.3076T>C	XP_011541710.1:p.Ser1026Pro
XM_017009484.1:c.2665T>C	XP_016864973.1:p.Ser889Pro
XM_017009485.1:c.2587T>C	XP_016864974.1:p.Ser863Pro
XR_001742068.2:n.3107T>C
NM_005921.2:c.3076T>C MANE Select	NP_005912.1:p.Ser1026Pro