Canonical Allele Identifier: CA370981973

Gene: RP1

Linked Data

• dbSNP Id: rs1427992943
• gnomAD v2: 8-55540776-C-G
• gnomAD v4: 8-54628216-C-G
• MyVariant Identifiers: chr8:g.55540776C>G (hg19) ; chr8:g.54628216C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628216C>G , CM000670.2:g.54628216C>G	GRCh38
NC_000008.10:g.55540776C>G , CM000670.1:g.55540776C>G	GRCh37
NC_000008.9:g.55703329C>G	NCBI36
NG_009840.1:g.17150C>G
NG_009840.2:g.17150C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4334C>G MANE Select	ENSP00000220676.1:p.Ser1445Cys
ENST00000636932.1:c.787+5928C>G	ENSP00000489857.1:n.787+5928C>G
ENST00000637698.1:c.787+5928C>G	ENSP00000490104.1:n.787+5928C>G
ENST00000220676.1:c.4334C>G	ENSP00000220676.1:p.Ser1445Cys
NM_006269.1:c.4334C>G	NP_006260.1:p.Ser1445Cys
XM_017013721.1:c.4355C>G	XP_016869210.1:p.Ser1452Cys
XM_017013722.1:c.4334C>G	XP_016869211.1:p.Ser1445Cys
NM_001375654.1:c.787+5928C>G	NP_001362583.1:n.787+5928C>G
NM_006269.2:c.4334C>G MANE Select	NP_006260.1:p.Ser1445Cys