Canonical Allele Identifier: CA4751810
Gene: RP1 HGNC NCBI

Linked Data

dbSNP Id: rs752032376
gnomAD v2: 8-55540607-T-C
gnomAD v4: 8-54628047-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628047T>C , CM000670.2:g.54628047T>C GRCh38
NC_000008.10:g.55540607T>C , CM000670.1:g.55540607T>C GRCh37
NC_000008.9:g.55703160T>C NCBI36
NG_009840.1:g.16981T>C
NG_009840.2:g.16981T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4165T>C MANE Select ENSP00000220676.1:p.Ser1389Pro
ENST00000636932.1:c.787+5759T>C ENSP00000489857.1:n.787+5759T>C
ENST00000637698.1:c.787+5759T>C ENSP00000490104.1:n.787+5759T>C
ENST00000220676.1:c.4165T>C ENSP00000220676.1:p.Ser1389Pro
NM_006269.1:c.4165T>C NP_006260.1:p.Ser1389Pro
XM_017013721.1:c.4186T>C XP_016869210.1:p.Ser1396Pro
XM_017013722.1:c.4165T>C XP_016869211.1:p.Ser1389Pro
NM_001375654.1:c.787+5759T>C NP_001362583.1:n.787+5759T>C
NM_006269.2:c.4165T>C MANE Select NP_006260.1:p.Ser1389Pro