Canonical Allele Identifier: CA370993883

Gene: RP1

Linked Data

• MyVariant Identifiers: chr8:g.55538898T>C (hg19) ; chr8:g.54626338T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626338T>C , CM000670.2:g.54626338T>C	GRCh38
NC_000008.10:g.55538898T>C , CM000670.1:g.55538898T>C	GRCh37
NC_000008.9:g.55701451T>C	NCBI36
NG_009840.1:g.15272T>C
NG_009840.2:g.15272T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2456T>C MANE Select	ENSP00000220676.1:p.Leu819Ser
ENST00000636932.1:c.787+4050T>C	ENSP00000489857.1:n.787+4050T>C
ENST00000637698.1:c.787+4050T>C	ENSP00000490104.1:n.787+4050T>C
ENST00000220676.1:c.2456T>C	ENSP00000220676.1:p.Leu819Ser
NM_006269.1:c.2456T>C	NP_006260.1:p.Leu819Ser
XM_017013721.1:c.2477T>C	XP_016869210.1:p.Leu826Ser
XM_017013722.1:c.2456T>C	XP_016869211.1:p.Leu819Ser
NM_001375654.1:c.787+4050T>C	NP_001362583.1:n.787+4050T>C
NM_006269.2:c.2456T>C MANE Select	NP_006260.1:p.Leu819Ser