Canonical Allele Identifier: CA4751423

Gene: RP1

Linked Data

• dbSNP Id: rs767432305
• ExAC: 8:55538166 T / C
• gnomAD v2: 8-55538166-T-C
• gnomAD v4: 8-54625606-T-C
• MyVariant Identifiers: chr8:g.55538166T>C (hg19) ; chr8:g.54625606T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625606T>C , CM000670.2:g.54625606T>C	GRCh38
NC_000008.10:g.55538166T>C , CM000670.1:g.55538166T>C	GRCh37
NC_000008.9:g.55700719T>C	NCBI36
NG_009840.1:g.14540T>C
NG_009840.2:g.14540T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.1724T>C MANE Select	ENSP00000220676.1:p.Ile575Thr
ENST00000636932.1:c.787+3318T>C	ENSP00000489857.1:n.787+3318T>C
ENST00000637698.1:c.787+3318T>C	ENSP00000490104.1:n.787+3318T>C
ENST00000220676.1:c.1724T>C	ENSP00000220676.1:p.Ile575Thr
NM_006269.1:c.1724T>C	NP_006260.1:p.Ile575Thr
XM_017013721.1:c.1745T>C	XP_016869210.1:p.Ile582Thr
XM_017013722.1:c.1724T>C	XP_016869211.1:p.Ile575Thr
NM_001375654.1:c.787+3318T>C	NP_001362583.1:n.787+3318T>C
NM_006269.2:c.1724T>C MANE Select	NP_006260.1:p.Ile575Thr