Canonical Allele Identifier: CA3273001

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 773980
• ClinVar RCV Id: RCV002066334 ; RCV003943060
• dbSNP Id: rs189290632
• ExAC: 5:56177458 A / G
• gnomAD v2: 5-56177458-A-G
• gnomAD v3: 5-56881631-A-G
• gnomAD v4: 5-56881631-A-G
• MyVariant Identifiers: chr5:g.56177458A>G (hg19) ; chr5:g.56881631A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881631A>G , CM000667.2:g.56881631A>G	GRCh38
NC_000005.9:g.56177458A>G , CM000667.1:g.56177458A>G	GRCh37
NC_000005.8:g.56213215A>G	NCBI36
NG_031884.1:g.71559A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2431A>G MANE Select	ENSP00000382423.3:p.Met811Val
ENST00000399503.3:c.2431A>G	ENSP00000382423.3:p.Met811Val
NM_005921.1:c.2431A>G	NP_005912.1:p.Met811Val
XM_005248519.3:c.2053A>G	XP_005248576.2:p.Met685Val
XM_011543406.1:c.2176A>G	XP_011541708.1:p.Met726Val
XM_011543407.1:c.2152A>G	XP_011541709.1:p.Met718Val
XM_011543408.1:c.2431A>G	XP_011541710.1:p.Met811Val
XM_017009484.1:c.2020A>G	XP_016864973.1:p.Met674Val
XM_017009485.1:c.1942A>G	XP_016864974.1:p.Met648Val
XR_001742068.2:n.2462A>G
NM_005921.2:c.2431A>G MANE Select	NP_005912.1:p.Met811Val