Canonical Allele Identifier: CA370295174
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 624311
ClinVar RCV Id: RCV000762495
dbSNP Id: rs1168570410
gnomAD v2: 8-10469992-G-A
gnomAD v3: 8-10612482-G-A
gnomAD v4: 8-10612482-G-A
MyVariant Identifiers: chr8:g.10469992G>A (hg19) chr8:g.10612482G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612482G>A , CM000670.2:g.10612482G>A GRCh38
NC_000008.10:g.10469992G>A , CM000670.1:g.10469992G>A GRCh37
NC_000008.9:g.10507402G>A NCBI36
NG_028035.1:g.47626C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1616C>T MANE Select ENSP00000371923.3:p.Thr539Ile
ENST00000382483.3:c.1616C>T ENSP00000371923.3:p.Thr539Ile
NM_178857.5:c.1616C>T NP_849188.4:p.Thr539Ile
NM_178857.6:c.1616C>T MANE Select NP_849188.4:p.Thr539Ile
Search 100 bp 5'
Search 100 bp 3'