Canonical Allele Identifier: CA9186354
Gene: P2RY11 HGNC NCBI
PPAN-P2RY11 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.10113863C>T
GRCh37 chr19:g.10224539C>T
Revel Score:
ENST00000393796 0.189
ENST00000556468 0.189
ENST00000321826 (MANE Select) 0.189
gnomAD v2:
19:10224539 C / T
gnomAD v3:
19:10113863 C / T
gnomAD v4:
chr19-10113863-C-T
Joint Max Group AF 0.00000689 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000576 (NFE)
ClinVar RCV:
RCV004258355
ClinVar Variation:
2465258
dbSNP:
757328124
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10113863C>T , CM000681.2:g.10113863C>T GRCh38
NC_000019.9:g.10224539C>T , CM000681.1:g.10224539C>T GRCh37
NC_000019.8:g.10085539C>T NCBI36
NG_047007.1:g.7343C>T
NG_051197.1:g.11062G>A
NG_051640.1:g.12641C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321826.5:c.250C>T (P2RY11) MANE Select ENSP00000323872.4:p.Pro84Ser
ENST00000321826.4:c.250C>T (P2RY11) ENSP00000323872.4:p.Pro84Ser
ENST00000393796.4:c.1510C>T (PPAN-P2RY11) ENSP00000377385.4:p.Pro504Ser
ENST00000428358.5:c.*9C>T (PPAN-P2RY11) ENSP00000411918.1:n.*9C>T
NM_001040664.2:c.1510C>T (PPAN-P2RY11) NP_001035754.1:p.Pro504Ser
NM_001198690.1:c.*9C>T (PPAN-P2RY11) NP_001185619.1:n.*9C>T
NM_002566.4:c.250C>T (P2RY11) NP_002557.2:p.Pro84Ser
NM_002566.5:c.250C>T (P2RY11) MANE Select NP_002557.2:p.Pro84Ser
NM_001040664.3:c.1510C>T (PPAN-P2RY11) NP_001035754.1:p.Pro504Ser
NM_001198690.2:c.*9C>T (PPAN-P2RY11) NP_001185619.1:n.*9C>T
Search 100 bp 5'
Search 100 bp 3'