Canonical Allele Identifier: CA4751757

Gene: RP1

Linked Data

• ClinVar Variation Id: 2711390
• ClinVar RCV Id: RCV003552875
• dbSNP Id: rs775168525
• ExAC: 8:55540288 T / A
• gnomAD v2: 8-55540288-T-A
• gnomAD v3: 8-54627728-T-A
• gnomAD v4: 8-54627728-T-A
• MyVariant Identifiers: chr8:g.55540288T>A (hg19) ; chr8:g.54627728T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627728T>A , CM000670.2:g.54627728T>A	GRCh38
NC_000008.10:g.55540288T>A , CM000670.1:g.55540288T>A	GRCh37
NC_000008.9:g.55702841T>A	NCBI36
NG_009840.1:g.16662T>A
NG_009840.2:g.16662T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3846T>A MANE Select	ENSP00000220676.1:p.Pro1282=
ENST00000636932.1:c.787+5440T>A	ENSP00000489857.1:n.787+5440T>A
ENST00000637698.1:c.787+5440T>A	ENSP00000490104.1:n.787+5440T>A
ENST00000220676.1:c.3846T>A	ENSP00000220676.1:p.Pro1282=
NM_006269.1:c.3846T>A	NP_006260.1:p.Pro1282=
XM_017013721.1:c.3867T>A	XP_016869210.1:p.Pro1289=
XM_017013722.1:c.3846T>A	XP_016869211.1:p.Pro1282=
NM_001375654.1:c.787+5440T>A	NP_001362583.1:n.787+5440T>A
NM_006269.2:c.3846T>A MANE Select	NP_006260.1:p.Pro1282=