Canonical Allele Identifier: CA9488992
Gene: PINLYP HGNC NCBI
XRCC1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.43577136A>G
GRCh37 chr19:g.44081288A>G
Revel Score:
ENST00000244321 0.040
gnomAD v2:
19:44081288 A / G
gnomAD v3:
19:43577136 A / G
gnomAD v4:
chr19-43577136-A-G
Joint Max Group AF 0.88387377 (EAS)
Genomes Max Group AF 0.86154391 (EAS)
Exomes Max Group AF 0.88987129 (AMR)
dbSNP:
2682585
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43577136A>G , CM000681.2:g.43577136A>G GRCh38
NC_000019.9:g.44081288A>G , CM000681.1:g.44081288A>G GRCh37
NC_000019.8:g.48773128A>G NCBI36
NG_033799.1:g.3443T>C , LRG_784:g.3443T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000599207.6:c.-56A>G (PINLYP) MANE Select ENSP00000469886.1:n.-56A>G
ENST00000244321.10:n.142A>G (PINLYP)
ENST00000594374.1:c.169+15732T>C
ENST00000598165.5:c.73-2134T>C (XRCC1) ENSP00000470045.1:n.73-2134T>C
ENST00000599693.5:c.70+3229T>C (XRCC1)
ENST00000612042.4:c.17A>G (PINLYP) ENSP00000479240.1:p.His6Arg
NM_001193621.1:c.17A>G (PINLYP) NP_001180550.1:p.His6Arg
XM_011526970.1:c.17A>G (PINLYP) XP_011525272.1:p.His6Arg
NM_001193621.2:c.-56A>G (PINLYP) NP_001180550.2:n.-56A>G
NM_001193621.3:c.-56A>G (PINLYP) MANE Select NP_001180550.2:n.-56A>G
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