Canonical Allele Identifier: CA4751378

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625350G>T , CM000670.2:g.54625350G>T	GRCh38
NC_000008.10:g.55537910G>T , CM000670.1:g.55537910G>T	GRCh37
NC_000008.9:g.55700463G>T	NCBI36
NG_009840.1:g.14284G>T
NG_009840.2:g.14284G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006269.2:c.1468G>T MANE Select	NP_006260.1:p.Glu490Ter
ENST00000220676.2:c.1468G>T MANE Select	ENSP00000220676.1:p.Glu490Ter
NM_001375654.1:c.787+3062G>T	NP_001362583.1:n.787+3062G>T
NM_006269.1:c.1468G>T	NP_006260.1:p.Glu490Ter
ENST00000220676.1:c.1468G>T	ENSP00000220676.1:p.Glu490Ter
ENST00000636932.1:c.787+3062G>T	ENSP00000489857.1:n.787+3062G>T
ENST00000637698.1:c.787+3062G>T	ENSP00000490104.1:n.787+3062G>T
XM_017013721.1:c.1489G>T	XP_016869210.1:p.Glu497Ter
XM_017013722.1:c.1468G>T	XP_016869211.1:p.Glu490Ter