Canonical Allele Identifier: CA4625682

Gene: RP1L1

Linked Data

• ClinVar Variation Id: 910536
• ClinVar RCV Id: RCV001162383 ; RCV001859049
• dbSNP Id: rs769690517
• ExAC: 8:10480235 G / T
• gnomAD v2: 8-10480235-G-T
• gnomAD v3: 8-10622725-G-T
• gnomAD v4: 8-10622725-G-T
• MyVariant Identifiers: chr8:g.10480235G>T (hg19) ; chr8:g.10622725G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622725G>T , CM000670.2:g.10622725G>T	GRCh38
NC_000008.10:g.10480235G>T , CM000670.1:g.10480235G>T	GRCh37
NC_000008.9:g.10517645G>T	NCBI36
NG_028035.1:g.37383C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.477C>A MANE Select	ENSP00000371923.3:p.Asn159Lys
ENST00000329335.3:n.727C>A
ENST00000382483.3:c.477C>A	ENSP00000371923.3:p.Asn159Lys
NM_178857.5:c.477C>A	NP_849188.4:p.Asn159Lys
NM_178857.6:c.477C>A MANE Select	NP_849188.4:p.Asn159Lys