Canonical Allele Identifier: CA3273116

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 707580
• ClinVar RCV Id: RCV000878647
• dbSNP Id: rs146112116
• ExAC: 5:56178114 C / T
• gnomAD v2: 5-56178114-C-T
• gnomAD v3: 5-56882287-C-T
• gnomAD v4: 5-56882287-C-T
• MyVariant Identifiers: chr5:g.56178114C>T (hg19) ; chr5:g.56882287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882287C>T , CM000667.2:g.56882287C>T	GRCh38
NC_000005.9:g.56178114C>T , CM000667.1:g.56178114C>T	GRCh37
NC_000005.8:g.56213871C>T	NCBI36
NG_031884.1:g.72215C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.3087C>T MANE Select	ENSP00000382423.3:p.Phe1029=
ENST00000399503.3:c.3087C>T	ENSP00000382423.3:p.Phe1029=
NM_005921.1:c.3087C>T	NP_005912.1:p.Phe1029=
XM_005248519.3:c.2709C>T	XP_005248576.2:p.Phe903=
XM_011543406.1:c.2832C>T	XP_011541708.1:p.Phe944=
XM_011543407.1:c.2808C>T	XP_011541709.1:p.Phe936=
XM_011543408.1:c.3087C>T	XP_011541710.1:p.Phe1029=
XM_017009484.1:c.2676C>T	XP_016864973.1:p.Phe892=
XM_017009485.1:c.2598C>T	XP_016864974.1:p.Phe866=
XR_001742068.2:n.3118C>T
NM_005921.2:c.3087C>T MANE Select	NP_005912.1:p.Phe1029=