Canonical Allele Identifier: CA370981313

Gene: RP1

Linked Data

• MyVariant Identifiers: chr8:g.55540563T>C (hg19) ; chr8:g.54628003T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628003T>C , CM000670.2:g.54628003T>C	GRCh38
NC_000008.10:g.55540563T>C , CM000670.1:g.55540563T>C	GRCh37
NC_000008.9:g.55703116T>C	NCBI36
NG_009840.1:g.16937T>C
NG_009840.2:g.16937T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.4121T>C MANE Select	ENSP00000220676.1:p.Ile1374Thr
ENST00000636932.1:c.787+5715T>C	ENSP00000489857.1:n.787+5715T>C
ENST00000637698.1:c.787+5715T>C	ENSP00000490104.1:n.787+5715T>C
ENST00000220676.1:c.4121T>C	ENSP00000220676.1:p.Ile1374Thr
NM_006269.1:c.4121T>C	NP_006260.1:p.Ile1374Thr
XM_017013721.1:c.4142T>C	XP_016869210.1:p.Ile1381Thr
XM_017013722.1:c.4121T>C	XP_016869211.1:p.Ile1374Thr
NM_001375654.1:c.787+5715T>C	NP_001362583.1:n.787+5715T>C
NM_006269.2:c.4121T>C MANE Select	NP_006260.1:p.Ile1374Thr