Canonical Allele Identifier: CA3272868

Gene: MAP3K1

Linked Data

• dbSNP Id: rs781496763
• ExAC: 5:56171023 A / T
• gnomAD v2: 5-56171023-A-T
• gnomAD v3: 5-56875196-A-T
• gnomAD v4: 5-56875196-A-T
• MyVariant Identifiers: chr5:g.56171023A>T (hg19) ; chr5:g.56875196A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875196A>T , CM000667.2:g.56875196A>T	GRCh38
NC_000005.9:g.56171023A>T , CM000667.1:g.56171023A>T	GRCh37
NC_000005.8:g.56206780A>T	NCBI36
NG_031884.1:g.65124A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1851A>T MANE Select	ENSP00000382423.3:p.Gly617=
ENST00000399503.3:c.1851A>T	ENSP00000382423.3:p.Gly617=
NM_005921.1:c.1851A>T	NP_005912.1:p.Gly617=
XM_005248519.3:c.1473A>T	XP_005248576.2:p.Gly491=
XM_011543406.1:c.1596A>T	XP_011541708.1:p.Gly532=
XM_011543407.1:c.1686+2191A>T	XP_011541709.1:n.1686+2191A>T
XM_011543408.1:c.1851A>T	XP_011541710.1:p.Gly617=
XM_017009484.1:c.1440A>T	XP_016864973.1:p.Gly480=
XM_017009485.1:c.1362A>T	XP_016864974.1:p.Gly454=
XR_001742068.2:n.1882A>T
NM_005921.2:c.1851A>T MANE Select	NP_005912.1:p.Gly617=