Canonical Allele Identifier: CA245312

Gene: RP1

Linked Data

• ClinVar Variation Id: 197274
• ClinVar RCV Id: RCV000288265 ; RCV000178265 ; RCV002517724
• dbSNP Id: rs147384119
• ExAC: 8:55539974 G / T
• gnomAD v2: 8-55539974-G-T
• gnomAD v3: 8-54627414-G-T
• gnomAD v4: 8-54627414-G-T
• MyVariant Identifiers: chr8:g.55539974G>T (hg19) ; chr8:g.54627414G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627414G>T , CM000670.2:g.54627414G>T	GRCh38
NC_000008.10:g.55539974G>T , CM000670.1:g.55539974G>T	GRCh37
NC_000008.9:g.55702527G>T	NCBI36
NG_009840.1:g.16348G>T
NG_009840.2:g.16348G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3532G>T MANE Select	ENSP00000220676.1:p.Asp1178Tyr
ENST00000636932.1:c.787+5126G>T	ENSP00000489857.1:n.787+5126G>T
ENST00000637698.1:c.787+5126G>T	ENSP00000490104.1:n.787+5126G>T
ENST00000220676.1:c.3532G>T	ENSP00000220676.1:p.Asp1178Tyr
NM_006269.1:c.3532G>T	NP_006260.1:p.Asp1178Tyr
XM_017013721.1:c.3553G>T	XP_016869210.1:p.Asp1185Tyr
XM_017013722.1:c.3532G>T	XP_016869211.1:p.Asp1178Tyr
NM_001375654.1:c.787+5126G>T	NP_001362583.1:n.787+5126G>T
NM_006269.2:c.3532G>T MANE Select	NP_006260.1:p.Asp1178Tyr