Canonical Allele Identifier: CA4751646

Gene: RP1

Linked Data

• ClinVar Variation Id: 281509
• ClinVar RCV Id: RCV000313881 ; RCV000962335 ; RCV001002272
• dbSNP Id: rs35234349
• ExAC: 8:55539574 A / C
• gnomAD v2: 8-55539574-A-C
• gnomAD v3: 8-54627014-A-C
• gnomAD v4: 8-54627014-A-C
• MyVariant Identifiers: chr8:g.55539574A>C (hg19) ; chr8:g.54627014A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627014A>C , CM000670.2:g.54627014A>C	GRCh38
NC_000008.10:g.55539574A>C , CM000670.1:g.55539574A>C	GRCh37
NC_000008.9:g.55702127A>C	NCBI36
NG_009840.1:g.15948A>C
NG_009840.2:g.15948A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3132A>C MANE Select	ENSP00000220676.1:p.Lys1044Asn
ENST00000636932.1:c.787+4726A>C	ENSP00000489857.1:n.787+4726A>C
ENST00000637698.1:c.787+4726A>C	ENSP00000490104.1:n.787+4726A>C
ENST00000220676.1:c.3132A>C	ENSP00000220676.1:p.Lys1044Asn
NM_006269.1:c.3132A>C	NP_006260.1:p.Lys1044Asn
XM_017013721.1:c.3153A>C	XP_016869210.1:p.Lys1051Asn
XM_017013722.1:c.3132A>C	XP_016869211.1:p.Lys1044Asn
NM_001375654.1:c.787+4726A>C	NP_001362583.1:n.787+4726A>C
NM_006269.2:c.3132A>C MANE Select	NP_006260.1:p.Lys1044Asn