Canonical Allele Identifier: CA4751216

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54621600C>T , CM000670.2:g.54621600C>T	GRCh38
NC_000008.10:g.55534160C>T , CM000670.1:g.55534160C>T	GRCh37
NC_000008.9:g.55696713C>T	NCBI36
NG_009840.1:g.10534C>T
NG_009840.2:g.10534C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.615+19C>T MANE Select	ENSP00000220676.1:n.615+19C>T
ENST00000636932.1:c.615+19C>T	ENSP00000489857.1:n.615+19C>T
ENST00000637698.1:c.615+19C>T	ENSP00000490104.1:n.615+19C>T
ENST00000220676.1:c.615+19C>T	ENSP00000220676.1:n.615+19C>T
NM_006269.1:c.615+19C>T	NP_006260.1:n.615+19C>T
XM_017013721.1:c.636+19C>T	XP_016869210.1:n.636+19C>T
XM_017013722.1:c.615+19C>T	XP_016869211.1:n.615+19C>T
NM_001375654.1:c.615+19C>T	NP_001362583.1:n.615+19C>T
NM_006269.2:c.615+19C>T MANE Select	NP_006260.1:n.615+19C>T