Canonical Allele Identifier: CA370295803
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3028049
ClinVar RCV Id: RCV003889419
dbSNP Id: rs2117206210
gnomAD v4: 8-10612810-G-A
MyVariant Identifiers: chr8:g.10470320G>A (hg19) chr8:g.10612810G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612810G>A , CM000670.2:g.10612810G>A GRCh38
NC_000008.10:g.10470320G>A , CM000670.1:g.10470320G>A GRCh37
NC_000008.9:g.10507730G>A NCBI36
NG_028035.1:g.47298C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1288C>T MANE Select ENSP00000371923.3:p.Gln430Ter
ENST00000382483.3:c.1288C>T ENSP00000371923.3:p.Gln430Ter
NM_178857.5:c.1288C>T NP_849188.4:p.Gln430Ter
NM_178857.6:c.1288C>T MANE Select NP_849188.4:p.Gln430Ter
Search 100 bp 5'
Search 100 bp 3'