Canonical Allele Identifier: CA10993423
Gene: PARP1 HGNC NCBI

Linked Data

dbSNP Id: rs8679
gnomAD v2: 1-226548554-A-G
gnomAD v3: 1-226360853-A-G
gnomAD v4: 1-226360853-A-G
MyVariant Identifiers: chr1:g.226548554A>G (hg19) chr1:g.226360853A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226360853A>G , CM000663.2:g.226360853A>G GRCh38
NC_000001.10:g.226548554A>G , CM000663.1:g.226548554A>G GRCh37
NC_000001.9:g.224615177A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366794.10:c.*607T>C MANE Select ENSP00000355759.5:n.*607T>C
ENST00000498787.2:n.5524T>C
ENST00000676481.1:n.1097T>C
ENST00000676565.1:n.3424T>C
ENST00000676685.1:n.6086T>C
ENST00000676709.1:n.4659T>C
ENST00000677091.1:c.*2334T>C ENSP00000504745.1:n.*2334T>C
ENST00000677189.1:n.1705T>C
ENST00000677203.1:c.*607T>C ENSP00000503396.1:n.*607T>C
ENST00000677884.1:n.4464T>C
ENST00000677985.1:n.1642T>C
ENST00000678144.1:c.*2472T>C ENSP00000504430.1:n.*2472T>C
ENST00000678226.1:n.2631T>C
ENST00000678288.1:n.1777T>C
ENST00000678560.1:c.*3640T>C ENSP00000503293.1:n.*3640T>C
ENST00000678781.1:n.5304T>C
ENST00000679276.1:n.4808T>C
ENST00000366794.9:c.*607T>C ENSP00000355759.5:n.*607T>C
NM_001618.3:c.*607T>C NP_001609.2:n.*607T>C
NM_001618.4:c.*607T>C MANE Select NP_001609.2:n.*607T>C
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