Canonical Allele Identifier: CA4625718
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361413
ClinVar RCV Id: RCV000365874 RCV000585100 RCV001700016 RCV002524540
dbSNP Id: rs189960401
ExAC: 8:10480305 C / T
gnomAD v2: 8-10480305-C-T
gnomAD v3: 8-10622795-C-T
gnomAD v4: 8-10622795-C-T
MyVariant Identifiers: chr8:g.10480305C>T (hg19) chr8:g.10622795C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622795C>T , CM000670.2:g.10622795C>T GRCh38
NC_000008.10:g.10480305C>T , CM000670.1:g.10480305C>T GRCh37
NC_000008.9:g.10517715C>T NCBI36
NG_028035.1:g.37313G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.407G>A MANE Select ENSP00000371923.3:p.Arg136His
ENST00000329335.3:n.657G>A
ENST00000382483.3:c.407G>A ENSP00000371923.3:p.Arg136His
NM_178857.5:c.407G>A NP_849188.4:p.Arg136His
NM_178857.6:c.407G>A MANE Select NP_849188.4:p.Arg136His
Search 100 bp 5'
Search 100 bp 3'