Canonical Allele Identifier: CA370981934

Gene: RP1

Linked Data

• ClinVar Variation Id: 1494063
• ClinVar RCV Id: RCV001986954
• dbSNP Id: rs1806133533
• gnomAD v4: 8-54628198-T-C
• MyVariant Identifiers: chr8:g.55540758T>C (hg19) ; chr8:g.54628198T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628198T>C , CM000670.2:g.54628198T>C	GRCh38
NC_000008.10:g.55540758T>C , CM000670.1:g.55540758T>C	GRCh37
NC_000008.9:g.55703311T>C	NCBI36
NG_009840.1:g.17132T>C
NG_009840.2:g.17132T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4316T>C MANE Select	ENSP00000220676.1:p.Met1439Thr
ENST00000636932.1:c.787+5910T>C	ENSP00000489857.1:n.787+5910T>C
ENST00000637698.1:c.787+5910T>C	ENSP00000490104.1:n.787+5910T>C
ENST00000220676.1:c.4316T>C	ENSP00000220676.1:p.Met1439Thr
NM_006269.1:c.4316T>C	NP_006260.1:p.Met1439Thr
XM_017013721.1:c.4337T>C	XP_016869210.1:p.Met1446Thr
XM_017013722.1:c.4316T>C	XP_016869211.1:p.Met1439Thr
NM_001375654.1:c.787+5910T>C	NP_001362583.1:n.787+5910T>C
NM_006269.2:c.4316T>C MANE Select	NP_006260.1:p.Met1439Thr