Canonical Allele Identifier: CA270129

Gene: RP1L1

Linked Data

• ClinVar Variation Id: 143164
• ClinVar RCV Id: RCV000132695 ; RCV001074141
• dbSNP Id: rs527236107
• ExAC: 8:10469636 G / A
• gnomAD v2: 8-10469636-G-A
• gnomAD v3: 8-10612126-G-A
• gnomAD v4: 8-10612126-G-A
• COSMIC: COSM6218747
• MyVariant Identifiers: chr8:g.10469636G>A (hg19) ; chr8:g.10612126G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10612126G>A , CM000670.2:g.10612126G>A	GRCh38
NC_000008.10:g.10469636G>A , CM000670.1:g.10469636G>A	GRCh37
NC_000008.9:g.10507046G>A	NCBI36
NG_028035.1:g.47982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.1972C>T MANE Select	ENSP00000371923.3:p.Arg658Ter
ENST00000382483.3:c.1972C>T	ENSP00000371923.3:p.Arg658Ter
NM_178857.5:c.1972C>T	NP_849188.4:p.Arg658Ter
NM_178857.6:c.1972C>T MANE Select	NP_849188.4:p.Arg658Ter