Canonical Allele Identifier: CA359785781

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1250641955
• gnomAD v2: 5-56177456-C-T
• MyVariant Identifiers: chr5:g.56177456C>T (hg19) ; chr5:g.56881629C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881629C>T , CM000667.2:g.56881629C>T	GRCh38
NC_000005.9:g.56177456C>T , CM000667.1:g.56177456C>T	GRCh37
NC_000005.8:g.56213213C>T	NCBI36
NG_031884.1:g.71557C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.2429C>T MANE Select	ENSP00000382423.3:p.Ser810Leu
ENST00000399503.3:c.2429C>T	ENSP00000382423.3:p.Ser810Leu
NM_005921.1:c.2429C>T	NP_005912.1:p.Ser810Leu
XM_005248519.3:c.2051C>T	XP_005248576.2:p.Ser684Leu
XM_011543406.1:c.2174C>T	XP_011541708.1:p.Ser725Leu
XM_011543407.1:c.2150C>T	XP_011541709.1:p.Ser717Leu
XM_011543408.1:c.2429C>T	XP_011541710.1:p.Ser810Leu
XM_017009484.1:c.2018C>T	XP_016864973.1:p.Ser673Leu
XM_017009485.1:c.1940C>T	XP_016864974.1:p.Ser647Leu
XR_001742068.2:n.2460C>T
NM_005921.2:c.2429C>T MANE Select	NP_005912.1:p.Ser810Leu