Canonical Allele Identifier: CA16618648

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626651A>G , CM000670.2:g.54626651A>G	GRCh38
NC_000008.10:g.55539211A>G , CM000670.1:g.55539211A>G	GRCh37
NC_000008.9:g.55701764A>G	NCBI36
NG_009840.1:g.15585A>G
NG_009840.2:g.15585A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006269.2:c.2769A>G MANE Select	NP_006260.1:p.Ile923Met
ENST00000220676.2:c.2769A>G MANE Select	ENSP00000220676.1:p.Ile923Met
NM_001375654.1:c.787+4363A>G	NP_001362583.1:n.787+4363A>G
NM_006269.1:c.2769A>G	NP_006260.1:p.Ile923Met
ENST00000220676.1:c.2769A>G	ENSP00000220676.1:p.Ile923Met
ENST00000636932.1:c.787+4363A>G	ENSP00000489857.1:n.787+4363A>G
ENST00000637698.1:c.787+4363A>G	ENSP00000490104.1:n.787+4363A>G
XM_017013721.1:c.2790A>G	XP_016869210.1:p.Ile930Met
XM_017013722.1:c.2769A>G	XP_016869211.1:p.Ile923Met