Canonical Allele Identifier: CA370992631

Gene: RP1

Linked Data

• ClinVar Variation Id: 437948
• ClinVar RCV Id: RCV000504878 ; RCV003558419
• dbSNP Id: rs1554519533
• MyVariant Identifiers: chr8:g.55538498C>T (hg19) ; chr8:g.54625938C>T (hg38)
• PubMed: PMID:16597330 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625938C>T , CM000670.2:g.54625938C>T	GRCh38
NC_000008.10:g.55538498C>T , CM000670.1:g.55538498C>T	GRCh37
NC_000008.9:g.55701051C>T	NCBI36
NG_009840.1:g.14872C>T
NG_009840.2:g.14872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2056C>T MANE Select	ENSP00000220676.1:p.Gln686Ter
ENST00000636932.1:c.787+3650C>T	ENSP00000489857.1:n.787+3650C>T
ENST00000637698.1:c.787+3650C>T	ENSP00000490104.1:n.787+3650C>T
ENST00000220676.1:c.2056C>T	ENSP00000220676.1:p.Gln686Ter
NM_006269.1:c.2056C>T	NP_006260.1:p.Gln686Ter
XM_017013721.1:c.2077C>T	XP_016869210.1:p.Gln693Ter
XM_017013722.1:c.2056C>T	XP_016869211.1:p.Gln686Ter
NM_001375654.1:c.787+3650C>T	NP_001362583.1:n.787+3650C>T
NM_006269.2:c.2056C>T MANE Select	NP_006260.1:p.Gln686Ter