Canonical Allele Identifier: CA461099731

Gene: RP1

Linked Data

• MyVariant Identifiers: chr8:g.55540588T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628028T>C , CM000670.2:g.54628028T>C	GRCh38
NC_000008.10:g.55540588T>C , CM000670.1:g.55540588T>C	GRCh37
NC_000008.9:g.55703141T>C	NCBI36
NG_009840.1:g.16962T>C
NG_009840.2:g.16962T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4146T>C MANE Select	ENSP00000220676.1:p.Asn1382=
ENST00000636932.1:c.787+5740T>C	ENSP00000489857.1:n.787+5740T>C
ENST00000637698.1:c.787+5740T>C	ENSP00000490104.1:n.787+5740T>C
ENST00000220676.1:c.4146T>C	ENSP00000220676.1:p.Asn1382=
NM_006269.1:c.4146T>C	NP_006260.1:p.Asn1382=
XM_017013721.1:c.4167T>C	XP_016869210.1:p.Asn1389=
XM_017013722.1:c.4146T>C	XP_016869211.1:p.Asn1382=
NM_001375654.1:c.787+5740T>C	NP_001362583.1:n.787+5740T>C
NM_006269.2:c.4146T>C MANE Select	NP_006260.1:p.Asn1382=