Canonical Allele Identifier: CA270095

Gene: RP1

Linked Data

• ClinVar Variation Id: 143136
• ClinVar RCV Id: RCV000132661 ; RCV001035254 ; RCV000825444 ; RCV002250573 ; RCV003888563
• dbSNP Id: rs118031911
• ExAC: 8:55542239 C / T
• gnomAD v2: 8-55542239-C-T
• gnomAD v3: 8-54629679-C-T
• gnomAD v4: 8-54629679-C-T
• MyVariant Identifiers: chr8:g.55542239C>T (hg19) ; chr8:g.54629679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54629679C>T , CM000670.2:g.54629679C>T	GRCh38
NC_000008.10:g.55542239C>T , CM000670.1:g.55542239C>T	GRCh37
NC_000008.9:g.55704792C>T	NCBI36
NG_009840.1:g.18613C>T
NG_009840.2:g.18613C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.5797C>T MANE Select	ENSP00000220676.1:p.Arg1933Ter
ENST00000636932.1:c.787+7391C>T	ENSP00000489857.1:n.787+7391C>T
ENST00000637698.1:c.787+7391C>T	ENSP00000490104.1:n.787+7391C>T
ENST00000220676.1:c.5797C>T	ENSP00000220676.1:p.Arg1933Ter
NM_006269.1:c.5797C>T	NP_006260.1:p.Arg1933Ter
XM_017013721.1:c.5818C>T	XP_016869210.1:p.Arg1940Ter
XM_017013722.1:c.5797C>T	XP_016869211.1:p.Arg1933Ter
NM_001375654.1:c.787+7391C>T	NP_001362583.1:n.787+7391C>T
NM_006269.2:c.5797C>T MANE Select	NP_006260.1:p.Arg1933Ter