Canonical Allele Identifier: CA370997482

Gene: RP1

Linked Data

• dbSNP Id: rs2129317332
• MyVariant Identifiers: chr8:g.55540324T>G (hg19) ; chr8:g.54627764T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627764T>G , CM000670.2:g.54627764T>G	GRCh38
NC_000008.10:g.55540324T>G , CM000670.1:g.55540324T>G	GRCh37
NC_000008.9:g.55702877T>G	NCBI36
NG_009840.1:g.16698T>G
NG_009840.2:g.16698T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3882T>G MANE Select	ENSP00000220676.1:p.Asn1294Lys
ENST00000636932.1:c.787+5476T>G	ENSP00000489857.1:n.787+5476T>G
ENST00000637698.1:c.787+5476T>G	ENSP00000490104.1:n.787+5476T>G
ENST00000220676.1:c.3882T>G	ENSP00000220676.1:p.Asn1294Lys
NM_006269.1:c.3882T>G	NP_006260.1:p.Asn1294Lys
XM_017013721.1:c.3903T>G	XP_016869210.1:p.Asn1301Lys
XM_017013722.1:c.3882T>G	XP_016869211.1:p.Asn1294Lys
NM_001375654.1:c.787+5476T>G	NP_001362583.1:n.787+5476T>G
NM_006269.2:c.3882T>G MANE Select	NP_006260.1:p.Asn1294Lys