Canonical Allele Identifier: CA370997382

Gene: RP1

Linked Data

• dbSNP Id: rs1336793392
• gnomAD v2: 8-55540278-C-A
• gnomAD v4: 8-54627718-C-A
• MyVariant Identifiers: chr8:g.55540278C>A (hg19) ; chr8:g.54627718C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627718C>A , CM000670.2:g.54627718C>A	GRCh38
NC_000008.10:g.55540278C>A , CM000670.1:g.55540278C>A	GRCh37
NC_000008.9:g.55702831C>A	NCBI36
NG_009840.1:g.16652C>A
NG_009840.2:g.16652C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3836C>A MANE Select	ENSP00000220676.1:p.Thr1279Asn
ENST00000636932.1:c.787+5430C>A	ENSP00000489857.1:n.787+5430C>A
ENST00000637698.1:c.787+5430C>A	ENSP00000490104.1:n.787+5430C>A
ENST00000220676.1:c.3836C>A	ENSP00000220676.1:p.Thr1279Asn
NM_006269.1:c.3836C>A	NP_006260.1:p.Thr1279Asn
XM_017013721.1:c.3857C>A	XP_016869210.1:p.Thr1286Asn
XM_017013722.1:c.3836C>A	XP_016869211.1:p.Thr1279Asn
NM_001375654.1:c.787+5430C>A	NP_001362583.1:n.787+5430C>A
NM_006269.2:c.3836C>A MANE Select	NP_006260.1:p.Thr1279Asn