Canonical Allele Identifier: CA2672421
Gene: P2RY1 HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.152836568A>G , CM000665.2:g.152836568A>G GRCh38
NC_000003.11:g.152554357A>G , CM000665.1:g.152554357A>G GRCh37
NC_000003.10:g.154037047A>G NCBI36
NG_032896.2:g.6622A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305097.6:c.786A>G MANE Select ENSP00000304767.3:p.Val262=
ENST00000305097.5:c.786A>G ENSP00000304767.3:p.Val262=
NM_002563.3:c.786A>G NP_002554.1:p.Val262=
NM_002563.4:c.786A>G NP_002554.1:p.Val262=
NM_002563.5:c.786A>G MANE Select NP_002554.1:p.Val262=