Canonical Allele Identifier: CA3273122

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 3122804
• ClinVar RCV Id: RCV004416192
• dbSNP Id: rs761299133
• ExAC: 5:56178149 A / T
• gnomAD v2: 5-56178149-A-T
• gnomAD v3: 5-56882322-A-T
• gnomAD v4: 5-56882322-A-T
• MyVariant Identifiers: chr5:g.56178149A>T (hg19) ; chr5:g.56882322A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882322A>T , CM000667.2:g.56882322A>T	GRCh38
NC_000005.9:g.56178149A>T , CM000667.1:g.56178149A>T	GRCh37
NC_000005.8:g.56213906A>T	NCBI36
NG_031884.1:g.72250A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3122A>T MANE Select	ENSP00000382423.3:p.Lys1041Ile
ENST00000399503.3:c.3122A>T	ENSP00000382423.3:p.Lys1041Ile
NM_005921.1:c.3122A>T	NP_005912.1:p.Lys1041Ile
XM_005248519.3:c.2744A>T	XP_005248576.2:p.Lys915Ile
XM_011543406.1:c.2867A>T	XP_011541708.1:p.Lys956Ile
XM_011543407.1:c.2843A>T	XP_011541709.1:p.Lys948Ile
XM_011543408.1:c.3122A>T	XP_011541710.1:p.Lys1041Ile
XM_017009484.1:c.2711A>T	XP_016864973.1:p.Lys904Ile
XM_017009485.1:c.2633A>T	XP_016864974.1:p.Lys878Ile
XR_001742068.2:n.3153A>T
NM_005921.2:c.3122A>T MANE Select	NP_005912.1:p.Lys1041Ile