Canonical Allele Identifier: CA210011
Gene: MAP3K1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.56859851C>T
GRCh37 chr5:g.56155678C>T
Revel Score:
ENST00000399503 (MANE Select) 0.723
gnomAD v2:
5:56155678 C / T
gnomAD v3:
5:56859851 C / T
gnomAD v4:
chr5-56859851-C-T
Joint Max Group AF 0.00362057 (SAS)
Genomes Max Group AF 0.00291655 (SAS)
Exomes Max Group AF 0.00359025 (SAS)
ClinVar RCV:
RCV000197066
RCV002247625
ClinVar Variation:
216959
dbSNP:
56160159
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859851C>T , CM000667.2:g.56859851C>T GRCh38
NC_000005.9:g.56155678C>T , CM000667.1:g.56155678C>T GRCh37
NC_000005.8:g.56191435C>T NCBI36
NG_031884.1:g.49779C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.770C>T MANE Select ENSP00000382423.3:p.Pro257Leu
ENST00000399503.3:c.770C>T ENSP00000382423.3:p.Pro257Leu
NM_005921.1:c.770C>T NP_005912.1:p.Pro257Leu
XM_005248519.3:c.392C>T XP_005248576.2:p.Pro131Leu
XM_011543406.1:c.515C>T XP_011541708.1:p.Pro172Leu
XM_011543407.1:c.770C>T XP_011541709.1:p.Pro257Leu
XM_011543408.1:c.770C>T XP_011541710.1:p.Pro257Leu
XM_017009484.1:c.359C>T XP_016864973.1:p.Pro120Leu
XM_017009485.1:c.281C>T XP_016864974.1:p.Pro94Leu
XR_001742068.2:n.801C>T
NM_005921.2:c.770C>T MANE Select NP_005912.1:p.Pro257Leu
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