Canonical Allele Identifier: CA4623757

Gene: RP1L1

Linked Data

• ClinVar Variation Id: 424192
• ClinVar RCV Id: RCV000482552 ; RCV002496876 ; RCV003889908
• dbSNP Id: rs200635063
• ExAC: 8:10466476 C / G
• gnomAD v2: 8-10466476-C-G
• gnomAD v3: 8-10608966-C-G
• gnomAD v4: 8-10608966-C-G
• MyVariant Identifiers: chr8:g.10466476C>G (hg19) ; chr8:g.10608966C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10608966C>G , CM000670.2:g.10608966C>G	GRCh38
NC_000008.10:g.10466476C>G , CM000670.1:g.10466476C>G	GRCh37
NC_000008.9:g.10503886C>G	NCBI36
NG_028035.1:g.51142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.5132G>C MANE Select	ENSP00000371923.3:p.Gly1711Ala
ENST00000382483.3:c.5132G>C	ENSP00000371923.3:p.Gly1711Ala
NM_178857.5:c.5132G>C	NP_849188.4:p.Gly1711Ala
NM_178857.6:c.5132G>C MANE Select	NP_849188.4:p.Gly1711Ala