Canonical Allele Identifier: CA4751748
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2093118
dbSNP Id: rs781628699
gnomAD v2: 8-55540230-C-T
gnomAD v3: 8-54627670-C-T
gnomAD v4: 8-54627670-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54627670C>T , CM000670.2:g.54627670C>T GRCh38
NC_000008.10:g.55540230C>T , CM000670.1:g.55540230C>T GRCh37
NC_000008.9:g.55702783C>T NCBI36
NG_009840.1:g.16604C>T
NG_009840.2:g.16604C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.3788C>T MANE Select ENSP00000220676.1:p.Thr1263Ile
ENST00000636932.1:c.787+5382C>T ENSP00000489857.1:n.787+5382C>T
ENST00000637698.1:c.787+5382C>T ENSP00000490104.1:n.787+5382C>T
ENST00000220676.1:c.3788C>T ENSP00000220676.1:p.Thr1263Ile
NM_006269.1:c.3788C>T NP_006260.1:p.Thr1263Ile
XM_017013721.1:c.3809C>T XP_016869210.1:p.Thr1270Ile
XM_017013722.1:c.3788C>T XP_016869211.1:p.Thr1263Ile
NM_001375654.1:c.787+5382C>T NP_001362583.1:n.787+5382C>T
NM_006269.2:c.3788C>T MANE Select NP_006260.1:p.Thr1263Ile