Canonical Allele Identifier: CA370981741

Gene: RP1

Linked Data

• ClinVar Variation Id: 1053994
• ClinVar RCV Id: RCV001362425
• dbSNP Id: rs1806129380
• gnomAD v4: 8-54628113-G-T
• MyVariant Identifiers: chr8:g.55540673G>T (hg19) ; chr8:g.54628113G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628113G>T , CM000670.2:g.54628113G>T	GRCh38
NC_000008.10:g.55540673G>T , CM000670.1:g.55540673G>T	GRCh37
NC_000008.9:g.55703226G>T	NCBI36
NG_009840.1:g.17047G>T
NG_009840.2:g.17047G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4231G>T MANE Select	ENSP00000220676.1:p.Asp1411Tyr
ENST00000636932.1:c.787+5825G>T	ENSP00000489857.1:n.787+5825G>T
ENST00000637698.1:c.787+5825G>T	ENSP00000490104.1:n.787+5825G>T
ENST00000220676.1:c.4231G>T	ENSP00000220676.1:p.Asp1411Tyr
NM_006269.1:c.4231G>T	NP_006260.1:p.Asp1411Tyr
XM_017013721.1:c.4252G>T	XP_016869210.1:p.Asp1418Tyr
XM_017013722.1:c.4231G>T	XP_016869211.1:p.Asp1411Tyr
NM_001375654.1:c.787+5825G>T	NP_001362583.1:n.787+5825G>T
NM_006269.2:c.4231G>T MANE Select	NP_006260.1:p.Asp1411Tyr