Canonical Allele Identifier: CA461099852

Gene: RP1

Linked Data

• ClinVar Variation Id: 2157097
• ClinVar RCV Id: RCV003091082
• dbSNP Id: rs1356860861
• gnomAD v2: 8-55540649-C-T
• gnomAD v3: 8-54628089-C-T
• gnomAD v4: 8-54628089-C-T
• MyVariant Identifiers: chr8:g.55540649C>T (hg19) ; chr8:g.54628089C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628089C>T , CM000670.2:g.54628089C>T	GRCh38
NC_000008.10:g.55540649C>T , CM000670.1:g.55540649C>T	GRCh37
NC_000008.9:g.55703202C>T	NCBI36
NG_009840.1:g.17023C>T
NG_009840.2:g.17023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4207C>T MANE Select	ENSP00000220676.1:p.Leu1403=
ENST00000636932.1:c.787+5801C>T	ENSP00000489857.1:n.787+5801C>T
ENST00000637698.1:c.787+5801C>T	ENSP00000490104.1:n.787+5801C>T
ENST00000220676.1:c.4207C>T	ENSP00000220676.1:p.Leu1403=
NM_006269.1:c.4207C>T	NP_006260.1:p.Leu1403=
XM_017013721.1:c.4228C>T	XP_016869210.1:p.Leu1410=
XM_017013722.1:c.4207C>T	XP_016869211.1:p.Leu1403=
NM_001375654.1:c.787+5801C>T	NP_001362583.1:n.787+5801C>T
NM_006269.2:c.4207C>T MANE Select	NP_006260.1:p.Leu1403=