Canonical Allele Identifier: CA4751497

Gene: RP1

Linked Data

• ClinVar Variation Id: 597524
• ClinVar RCV Id: RCV000733675 ; RCV001074029 ; RCV001453353
• dbSNP Id: rs147990983
• ExAC: 8:55538687 C / T
• gnomAD v2: 8-55538687-C-T
• gnomAD v3: 8-54626127-C-T
• gnomAD v4: 8-54626127-C-T
• MyVariant Identifiers: chr8:g.55538687C>T (hg19) ; chr8:g.54626127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626127C>T , CM000670.2:g.54626127C>T	GRCh38
NC_000008.10:g.55538687C>T , CM000670.1:g.55538687C>T	GRCh37
NC_000008.9:g.55701240C>T	NCBI36
NG_009840.1:g.15061C>T
NG_009840.2:g.15061C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2245C>T MANE Select	ENSP00000220676.1:p.Leu749Phe
ENST00000636932.1:c.787+3839C>T	ENSP00000489857.1:n.787+3839C>T
ENST00000637698.1:c.787+3839C>T	ENSP00000490104.1:n.787+3839C>T
ENST00000220676.1:c.2245C>T	ENSP00000220676.1:p.Leu749Phe
NM_006269.1:c.2245C>T	NP_006260.1:p.Leu749Phe
XM_017013721.1:c.2266C>T	XP_016869210.1:p.Leu756Phe
XM_017013722.1:c.2245C>T	XP_016869211.1:p.Leu749Phe
NM_001375654.1:c.787+3839C>T	NP_001362583.1:n.787+3839C>T
NM_006269.2:c.2245C>T MANE Select	NP_006260.1:p.Leu749Phe