Canonical Allele Identifier: CA3272999
Gene: MAP3K1 HGNC NCBI
COSMIC:
COSM4003564 (not active)
MyVariant.info:
GRCh38 chr5:g.56881616G>A
GRCh37 chr5:g.56177443G>A
Revel Score:
ENST00000399503 (MANE Select) 0.152
gnomAD v2:
5:56177443 G / A
gnomAD v3:
5:56881616 G / A
gnomAD v4:
chr5-56881616-G-A
Joint Max Group AF 0.72035704 (NFE)
Genomes Max Group AF 0.71017825 (NFE)
Exomes Max Group AF 0.72069353 (NFE)
ClinVar RCV:
RCV000605336
RCV001637101
ClinVar Variation:
518364
dbSNP:
702689
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881616G>A , CM000667.2:g.56881616G>A GRCh38
NC_000005.9:g.56177443G>A , CM000667.1:g.56177443G>A GRCh37
NC_000005.8:g.56213200G>A NCBI36
NG_031884.1:g.71544G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.2416G>A MANE Select ENSP00000382423.3:p.Asp806Asn
ENST00000399503.3:c.2416G>A ENSP00000382423.3:p.Asp806Asn
NM_005921.1:c.2416G>A NP_005912.1:p.Asp806Asn
XM_005248519.3:c.2038G>A XP_005248576.2:p.Asp680Asn
XM_011543406.1:c.2161G>A XP_011541708.1:p.Asp721Asn
XM_011543407.1:c.2137G>A XP_011541709.1:p.Asp713Asn
XM_011543408.1:c.2416G>A XP_011541710.1:p.Asp806Asn
XM_017009484.1:c.2005G>A XP_016864973.1:p.Asp669Asn
XM_017009485.1:c.1927G>A XP_016864974.1:p.Asp643Asn
XR_001742068.2:n.2447G>A
NM_005921.2:c.2416G>A MANE Select NP_005912.1:p.Asp806Asn
Search 100 bp 5'
Search 100 bp 3'