Canonical Allele Identifier: CA3562016
Gene: DUSP1 HGNC NCBI
COSMIC:
COSM5427058 (not active)
MyVariant.info:
GRCh38 chr5:g.172770578G>C
GRCh37 chr5:g.172197581G>C
gnomAD v2:
5:172197581 G / C
gnomAD v3:
5:172770578 G / C
gnomAD v4:
chr5-172770578-G-C
Joint Max Group AF 0.29738241 (EAS)
Genomes Max Group AF 0.27995332 (EAS)
Exomes Max Group AF 0.29865151 (EAS)
dbSNP:
34507926
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.172770578G>C , CM000667.2:g.172770578G>C GRCh38
NC_000005.9:g.172197581G>C , CM000667.1:g.172197581G>C GRCh37
NC_000005.8:g.172130187G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239223.4:c.367+8C>G MANE Select ENSP00000239223.3:n.367+8C>G
ENST00000239223.3:c.367+8C>G ENSP00000239223.3:n.367+8C>G
NM_004417.3:c.367+8C>G NP_004408.1:n.367+8C>G
NM_004417.4:c.367+8C>G MANE Select NP_004408.1:n.367+8C>G
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