Canonical Allele Identifier: CA4751788

Gene: RP1

Linked Data

• dbSNP Id: rs779094548
• ExAC: 8:55540453 T / C
• gnomAD v2: 8-55540453-T-C
• COSMIC: COSM1635824
• MyVariant Identifiers: chr8:g.55540453T>C (hg19) ; chr8:g.54627893T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627893T>C , CM000670.2:g.54627893T>C	GRCh38
NC_000008.10:g.55540453T>C , CM000670.1:g.55540453T>C	GRCh37
NC_000008.9:g.55703006T>C	NCBI36
NG_009840.1:g.16827T>C
NG_009840.2:g.16827T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4011T>C MANE Select	ENSP00000220676.1:p.Asn1337=
ENST00000636932.1:c.787+5605T>C	ENSP00000489857.1:n.787+5605T>C
ENST00000637698.1:c.787+5605T>C	ENSP00000490104.1:n.787+5605T>C
ENST00000220676.1:c.4011T>C	ENSP00000220676.1:p.Asn1337=
NM_006269.1:c.4011T>C	NP_006260.1:p.Asn1337=
XM_017013721.1:c.4032T>C	XP_016869210.1:p.Asn1344=
XM_017013722.1:c.4011T>C	XP_016869211.1:p.Asn1337=
NM_001375654.1:c.787+5605T>C	NP_001362583.1:n.787+5605T>C
NM_006269.2:c.4011T>C MANE Select	NP_006260.1:p.Asn1337=