Canonical Allele Identifier: CA4751409

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625507C>G , CM000670.2:g.54625507C>G	GRCh38
NC_000008.10:g.55538067C>G , CM000670.1:g.55538067C>G	GRCh37
NC_000008.9:g.55700620C>G	NCBI36
NG_009840.1:g.14441C>G
NG_009840.2:g.14441C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006269.2:c.1625C>G MANE Select	NP_006260.1:p.Ser542Ter
ENST00000220676.2:c.1625C>G MANE Select	ENSP00000220676.1:p.Ser542Ter
NM_001375654.1:c.787+3219C>G	NP_001362583.1:n.787+3219C>G
NM_006269.1:c.1625C>G	NP_006260.1:p.Ser542Ter
ENST00000220676.1:c.1625C>G	ENSP00000220676.1:p.Ser542Ter
ENST00000636932.1:c.787+3219C>G	ENSP00000489857.1:n.787+3219C>G
ENST00000637698.1:c.787+3219C>G	ENSP00000490104.1:n.787+3219C>G
XM_017013721.1:c.1646C>G	XP_016869210.1:p.Ser549Ter
XM_017013722.1:c.1625C>G	XP_016869211.1:p.Ser542Ter