Canonical Allele Identifier: CA234799

Gene: RP1

Linked Data

• ClinVar Variation Id: 167601
• ClinVar RCV Id: RCV000153846 ; RCV001002259 ; RCV001158394 ; RCV001698978
• dbSNP Id: rs142600056
• ExAC: 8:55533754 C / T
• gnomAD v2: 8-55533754-C-T
• gnomAD v3: 8-54621194-C-T
• gnomAD v4: 8-54621194-C-T
• MyVariant Identifiers: chr8:g.55533754C>T (hg19) ; chr8:g.54621194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54621194C>T , CM000670.2:g.54621194C>T	GRCh38
NC_000008.10:g.55533754C>T , CM000670.1:g.55533754C>T	GRCh37
NC_000008.9:g.55696307C>T	NCBI36
NG_009840.1:g.10128C>T
NG_009840.2:g.10128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.228C>T MANE Select	ENSP00000220676.1:p.Leu76=
ENST00000636932.1:c.228C>T	ENSP00000489857.1:p.Leu76=
ENST00000637698.1:c.228C>T	ENSP00000490104.1:p.Leu76=
ENST00000220676.1:c.228C>T	ENSP00000220676.1:p.Leu76=
NM_006269.1:c.228C>T	NP_006260.1:p.Leu76=
XM_017013721.1:c.249C>T	XP_016869210.1:p.Leu83=
XM_017013722.1:c.228C>T	XP_016869211.1:p.Leu76=
NM_001375654.1:c.228C>T	NP_001362583.1:p.Leu76=
NM_006269.2:c.228C>T MANE Select	NP_006260.1:p.Leu76=