Canonical Allele Identifier: CA4751822
Gene: RP1 HGNC NCBI

Linked Data

dbSNP Id: rs776511626
gnomAD v2: 8-55540671-T-G
gnomAD v4: 8-54628111-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628111T>G , CM000670.2:g.54628111T>G GRCh38
NC_000008.10:g.55540671T>G , CM000670.1:g.55540671T>G GRCh37
NC_000008.9:g.55703224T>G NCBI36
NG_009840.1:g.17045T>G
NG_009840.2:g.17045T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4229T>G MANE Select ENSP00000220676.1:p.Leu1410Arg
ENST00000636932.1:c.787+5823T>G ENSP00000489857.1:n.787+5823T>G
ENST00000637698.1:c.787+5823T>G ENSP00000490104.1:n.787+5823T>G
ENST00000220676.1:c.4229T>G ENSP00000220676.1:p.Leu1410Arg
NM_006269.1:c.4229T>G NP_006260.1:p.Leu1410Arg
XM_017013721.1:c.4250T>G XP_016869210.1:p.Leu1417Arg
XM_017013722.1:c.4229T>G XP_016869211.1:p.Leu1410Arg
NM_001375654.1:c.787+5823T>G NP_001362583.1:n.787+5823T>G
NM_006269.2:c.4229T>G MANE Select NP_006260.1:p.Leu1410Arg