Canonical Allele Identifier: CA3273111

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 1521343
• ClinVar RCV Id: RCV002031230 ; RCV002508335
• dbSNP Id: rs780666910
• ExAC: 5:56178097 A / C
• gnomAD v2: 5-56178097-A-C
• gnomAD v3: 5-56882270-A-C
• gnomAD v4: 5-56882270-A-C
• MyVariant Identifiers: chr5:g.56178097A>C (hg19) ; chr5:g.56882270A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882270A>C , CM000667.2:g.56882270A>C	GRCh38
NC_000005.9:g.56178097A>C , CM000667.1:g.56178097A>C	GRCh37
NC_000005.8:g.56213854A>C	NCBI36
NG_031884.1:g.72198A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3070A>C MANE Select	ENSP00000382423.3:p.Lys1024Gln
ENST00000399503.3:c.3070A>C	ENSP00000382423.3:p.Lys1024Gln
NM_005921.1:c.3070A>C	NP_005912.1:p.Lys1024Gln
XM_005248519.3:c.2692A>C	XP_005248576.2:p.Lys898Gln
XM_011543406.1:c.2815A>C	XP_011541708.1:p.Lys939Gln
XM_011543407.1:c.2791A>C	XP_011541709.1:p.Lys931Gln
XM_011543408.1:c.3070A>C	XP_011541710.1:p.Lys1024Gln
XM_017009484.1:c.2659A>C	XP_016864973.1:p.Lys887Gln
XM_017009485.1:c.2581A>C	XP_016864974.1:p.Lys861Gln
XR_001742068.2:n.3101A>C
NM_005921.2:c.3070A>C MANE Select	NP_005912.1:p.Lys1024Gln