Canonical Allele Identifier: CA370980791
Gene: RP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54627836G>T , CM000670.2:g.54627836G>T GRCh38
NC_000008.10:g.55540396G>T , CM000670.1:g.55540396G>T GRCh37
NC_000008.9:g.55702949G>T NCBI36
NG_009840.1:g.16770G>T
NG_009840.2:g.16770G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.3954G>T MANE Select ENSP00000220676.1:p.Lys1318Asn
ENST00000636932.1:c.787+5548G>T ENSP00000489857.1:n.787+5548G>T
ENST00000637698.1:c.787+5548G>T ENSP00000490104.1:n.787+5548G>T
ENST00000220676.1:c.3954G>T ENSP00000220676.1:p.Lys1318Asn
NM_006269.1:c.3954G>T NP_006260.1:p.Lys1318Asn
XM_017013721.1:c.3975G>T XP_016869210.1:p.Lys1325Asn
XM_017013722.1:c.3954G>T XP_016869211.1:p.Lys1318Asn
NM_001375654.1:c.787+5548G>T NP_001362583.1:n.787+5548G>T
NM_006269.2:c.3954G>T MANE Select NP_006260.1:p.Lys1318Asn