Canonical Allele Identifier: CA3273130

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 518366
• ClinVar RCV Id: RCV000599946 ; RCV001675939
• dbSNP Id: rs832583
• ExAC: 5:56178217 A / C
• gnomAD v2: 5-56178217-A-C
• gnomAD v3: 5-56882390-A-C
• gnomAD v4: 5-56882390-A-C
• MyVariant Identifiers: chr5:g.56178217A>C (hg19) ; chr5:g.56882390A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882390A>C , CM000667.2:g.56882390A>C	GRCh38
NC_000005.9:g.56178217A>C , CM000667.1:g.56178217A>C	GRCh37
NC_000005.8:g.56213974A>C	NCBI36
NG_031884.1:g.72318A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3190A>C MANE Select	ENSP00000382423.3:p.Arg1064=
ENST00000399503.3:c.3190A>C	ENSP00000382423.3:p.Arg1064=
NM_005921.1:c.3190A>C	NP_005912.1:p.Arg1064=
XM_005248519.3:c.2812A>C	XP_005248576.2:p.Arg938=
XM_011543406.1:c.2935A>C	XP_011541708.1:p.Arg979=
XM_011543407.1:c.2911A>C	XP_011541709.1:p.Arg971=
XM_011543408.1:c.3190A>C	XP_011541710.1:p.Arg1064=
XM_017009484.1:c.2779A>C	XP_016864973.1:p.Arg927=
XM_017009485.1:c.2701A>C	XP_016864974.1:p.Arg901=
XR_001742068.2:n.3221A>C
NM_005921.2:c.3190A>C MANE Select	NP_005912.1:p.Arg1064=