Canonical Allele Identifier: CA10975884
Gene: PARP1 HGNC NCBI

Linked Data

dbSNP Id: rs3219090
gnomAD v2: 1-226564691-T-C
gnomAD v3: 1-226376990-T-C
gnomAD v4: 1-226376990-T-C
MyVariant Identifiers: chr1:g.226564691T>C (hg19) chr1:g.226376990T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226376990T>C , CM000663.2:g.226376990T>C GRCh38
NC_000001.10:g.226564691T>C , CM000663.1:g.226564691T>C GRCh37
NC_000001.9:g.224631314T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000366794.10:c.1941+118A>G MANE Select ENSP00000355759.5:n.1941+118A>G
ENST00000676685.1:n.2166+118A>G
ENST00000676709.1:n.2166+118A>G
ENST00000677091.1:c.*623+118A>G ENSP00000504745.1:n.*623+118A>G
ENST00000677203.1:c.1941+118A>G ENSP00000503396.1:n.1941+118A>G
ENST00000677374.1:n.3127+118A>G
ENST00000677884.1:n.2753+118A>G
ENST00000678144.1:c.*761+118A>G ENSP00000504430.1:n.*761+118A>G
ENST00000678226.1:n.920+118A>G
ENST00000678560.1:c.*1929+118A>G ENSP00000503293.1:n.*1929+118A>G
ENST00000678781.1:n.2166+118A>G
ENST00000679276.1:n.2166+118A>G
ENST00000366794.9:c.1941+118A>G ENSP00000355759.5:n.1941+118A>G
NM_001618.3:c.1941+118A>G NP_001609.2:n.1941+118A>G
NM_001618.4:c.1941+118A>G MANE Select NP_001609.2:n.1941+118A>G
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