Canonical Allele Identifier: CA4623490

Gene: RP1L1

Linked Data

• ClinVar Variation Id: 425431
• ClinVar RCV Id: RCV000487849 ; RCV000988031 ; RCV001257841
• dbSNP Id: rs200846354
• ExAC: 8:10465649 G / A
• gnomAD v2: 8-10465649-G-A
• gnomAD v3: 8-10608139-G-A
• gnomAD v4: 8-10608139-G-A
• MyVariant Identifiers: chr8:g.10465649G>A (hg19) ; chr8:g.10608139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10608139G>A , CM000670.2:g.10608139G>A	GRCh38
NC_000008.10:g.10465649G>A , CM000670.1:g.10465649G>A	GRCh37
NC_000008.9:g.10503059G>A	NCBI36
NG_028035.1:g.51969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.5959C>T MANE Select	ENSP00000371923.3:p.Gln1987Ter
ENST00000382483.3:c.5959C>T	ENSP00000371923.3:p.Gln1987Ter
NM_178857.5:c.5959C>T	NP_849188.4:p.Gln1987Ter
NM_178857.6:c.5959C>T MANE Select	NP_849188.4:p.Gln1987Ter