Canonical Allele Identifier: CA1785188980
Gene: RP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54627991A= , CM000670.2:g.54627991A= GRCh38
NC_000008.10:g.55540551A= , CM000670.1:g.55540551A= GRCh37
NC_000008.9:g.55703104A= NCBI36
NG_009840.1:g.16925A=
NG_009840.2:g.16925A=

Transcript Alleles

HGVS Amino-acid change
ENST00000220676.2:c.4109A= MANE Select ENSP00000220676.1:p.Lys1370=
ENST00000636932.1:c.787+5703A= ENSP00000489857.1:n.787+5703A=
ENST00000637698.1:c.787+5703A= ENSP00000490104.1:n.787+5703A=
ENST00000220676.1:c.4109A= ENSP00000220676.1:p.Lys1370=
NM_006269.1:c.4109A= NP_006260.1:p.Lys1370=
XM_017013721.1:c.4130A= XP_016869210.1:p.Lys1377=
XM_017013722.1:c.4109A= XP_016869211.1:p.Lys1370=
NM_001375654.1:c.787+5703A= NP_001362583.1:n.787+5703A=
NM_006269.2:c.4109A= MANE Select NP_006260.1:p.Lys1370=