Canonical Allele Identifier: CA370981421
Gene: RP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628042T>C , CM000670.2:g.54628042T>C GRCh38
NC_000008.10:g.55540602T>C , CM000670.1:g.55540602T>C GRCh37
NC_000008.9:g.55703155T>C NCBI36
NG_009840.1:g.16976T>C
NG_009840.2:g.16976T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4160T>C MANE Select ENSP00000220676.1:p.Leu1387Ser
ENST00000636932.1:c.787+5754T>C ENSP00000489857.1:n.787+5754T>C
ENST00000637698.1:c.787+5754T>C ENSP00000490104.1:n.787+5754T>C
ENST00000220676.1:c.4160T>C ENSP00000220676.1:p.Leu1387Ser
NM_006269.1:c.4160T>C NP_006260.1:p.Leu1387Ser
XM_017013721.1:c.4181T>C XP_016869210.1:p.Leu1394Ser
XM_017013722.1:c.4160T>C XP_016869211.1:p.Leu1387Ser
NM_001375654.1:c.787+5754T>C NP_001362583.1:n.787+5754T>C
NM_006269.2:c.4160T>C MANE Select NP_006260.1:p.Leu1387Ser