Canonical Allele Identifier: CA370982847

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628518C>T , CM000670.2:g.54628518C>T	GRCh38
NC_000008.10:g.55541078C>T , CM000670.1:g.55541078C>T	GRCh37
NC_000008.9:g.55703631C>T	NCBI36
NG_009840.1:g.17452C>T
NG_009840.2:g.17452C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006269.2:c.4636C>T MANE Select	NP_006260.1:p.Gln1546Ter
ENST00000220676.2:c.4636C>T MANE Select	ENSP00000220676.1:p.Gln1546Ter
NM_001375654.1:c.787+6230C>T	NP_001362583.1:n.787+6230C>T
NM_006269.1:c.4636C>T	NP_006260.1:p.Gln1546Ter
ENST00000220676.1:c.4636C>T	ENSP00000220676.1:p.Gln1546Ter
ENST00000636932.1:c.787+6230C>T	ENSP00000489857.1:n.787+6230C>T
ENST00000637698.1:c.787+6230C>T	ENSP00000490104.1:n.787+6230C>T
XM_017013721.1:c.4657C>T	XP_016869210.1:p.Gln1553Ter
XM_017013722.1:c.4636C>T	XP_016869211.1:p.Gln1546Ter