Canonical Allele Identifier: CA3272866

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 30145
• ClinVar RCV Id: RCV000023056 ; RCV002247381
• dbSNP Id: rs143853590
• ExAC: 5:56171018 G / A
• gnomAD v2: 5-56171018-G-A
• gnomAD v3: 5-56875191-G-A
• gnomAD v4: 5-56875191-G-A
• MyVariant Identifiers: chr5:g.56171018G>A (hg19) ; chr5:g.56875191G>A (hg38)
• PubMed: PMID:5419329 ; PMID:21129722

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875191G>A , CM000667.2:g.56875191G>A	GRCh38
NC_000005.9:g.56171018G>A , CM000667.1:g.56171018G>A	GRCh37
NC_000005.8:g.56206775G>A	NCBI36
NG_031884.1:g.65119G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1846G>A MANE Select	ENSP00000382423.3:p.Gly616Arg
ENST00000399503.3:c.1846G>A	ENSP00000382423.3:p.Gly616Arg
NM_005921.1:c.1846G>A	NP_005912.1:p.Gly616Arg
XM_005248519.3:c.1468G>A	XP_005248576.2:p.Gly490Arg
XM_011543406.1:c.1591G>A	XP_011541708.1:p.Gly531Arg
XM_011543407.1:c.1686+2186G>A	XP_011541709.1:n.1686+2186G>A
XM_011543408.1:c.1846G>A	XP_011541710.1:p.Gly616Arg
XM_017009484.1:c.1435G>A	XP_016864973.1:p.Gly479Arg
XM_017009485.1:c.1357G>A	XP_016864974.1:p.Gly453Arg
XR_001742068.2:n.1877G>A
NM_005921.2:c.1846G>A MANE Select	NP_005912.1:p.Gly616Arg