Canonical Allele Identifier: CA359787694

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1444422239
• gnomAD v2: 5-56178143-C-T
• gnomAD v4: 5-56882316-C-T
• MyVariant Identifiers: chr5:g.56178143C>T (hg19) ; chr5:g.56882316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882316C>T , CM000667.2:g.56882316C>T	GRCh38
NC_000005.9:g.56178143C>T , CM000667.1:g.56178143C>T	GRCh37
NC_000005.8:g.56213900C>T	NCBI36
NG_031884.1:g.72244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3116C>T MANE Select	ENSP00000382423.3:p.Ser1039Leu
ENST00000399503.3:c.3116C>T	ENSP00000382423.3:p.Ser1039Leu
NM_005921.1:c.3116C>T	NP_005912.1:p.Ser1039Leu
XM_005248519.3:c.2738C>T	XP_005248576.2:p.Ser913Leu
XM_011543406.1:c.2861C>T	XP_011541708.1:p.Ser954Leu
XM_011543407.1:c.2837C>T	XP_011541709.1:p.Ser946Leu
XM_011543408.1:c.3116C>T	XP_011541710.1:p.Ser1039Leu
XM_017009484.1:c.2705C>T	XP_016864973.1:p.Ser902Leu
XM_017009485.1:c.2627C>T	XP_016864974.1:p.Ser876Leu
XR_001742068.2:n.3147C>T
NM_005921.2:c.3116C>T MANE Select	NP_005912.1:p.Ser1039Leu