Canonical Allele Identifier: CA270091

Gene: RP1

Linked Data

• ClinVar Variation Id: 143134
• ClinVar RCV Id: RCV000132658 ; RCV001075254 ; RCV001064832 ; RCV001376316
• dbSNP Id: rs201493928
• ExAC: 8:55537628 C / T
• gnomAD v2: 8-55537628-C-T
• gnomAD v3: 8-54625068-C-T
• gnomAD v4: 8-54625068-C-T
• MyVariant Identifiers: chr8:g.55537628C>T (hg19) ; chr8:g.54625068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625068C>T , CM000670.2:g.54625068C>T	GRCh38
NC_000008.10:g.55537628C>T , CM000670.1:g.55537628C>T	GRCh37
NC_000008.9:g.55700181C>T	NCBI36
NG_009840.1:g.14002C>T
NG_009840.2:g.14002C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.1186C>T MANE Select	ENSP00000220676.1:p.Arg396Ter
ENST00000636932.1:c.787+2780C>T	ENSP00000489857.1:n.787+2780C>T
ENST00000637698.1:c.787+2780C>T	ENSP00000490104.1:n.787+2780C>T
ENST00000220676.1:c.1186C>T	ENSP00000220676.1:p.Arg396Ter
NM_006269.1:c.1186C>T	NP_006260.1:p.Arg396Ter
XM_017013721.1:c.1207C>T	XP_016869210.1:p.Arg403Ter
XM_017013722.1:c.1186C>T	XP_016869211.1:p.Arg396Ter
NM_001375654.1:c.787+2780C>T	NP_001362583.1:n.787+2780C>T
NM_006269.2:c.1186C>T MANE Select	NP_006260.1:p.Arg396Ter