Canonical Allele Identifier: CA12762740
Gene: RP1 HGNC NCBI
COSMIC:
COSN8577633 (not active)
MyVariant.info:
GRCh38 chr8:g.54524964A>G
GRCh37 chr8:g.55437524A>G
gnomAD v2:
8:55437524 A / G
gnomAD v3:
8:54524964 A / G
gnomAD v4:
chr8-54524964-A-G
Joint Max Group AF 0.22310428 (SAS)
Genomes Max Group AF 0.22310428 (SAS)
dbSNP:
9298506
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54524964A>G , CM000670.2:g.54524964A>G GRCh38
NC_000008.10:g.55437524A>G , CM000670.1:g.55437524A>G GRCh37
NC_000008.9:g.55600077A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000646684.1:n.128-7732A>G
XM_017013721.1:c.-1189-7732A>G XP_016869210.1:n.-1189-7732A>G
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