Canonical Allele Identifier: CA4625299
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361383
ClinVar RCV Id: RCV000328391 RCV000659097 RCV003922617
dbSNP Id: rs184332984
ExAC: 8:10470470 C / T
gnomAD v2: 8-10470470-C-T
gnomAD v3: 8-10612960-C-T
gnomAD v4: 8-10612960-C-T
MyVariant Identifiers: chr8:g.10470470C>T (hg19) chr8:g.10612960C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612960C>T , CM000670.2:g.10612960C>T GRCh38
NC_000008.10:g.10470470C>T , CM000670.1:g.10470470C>T GRCh37
NC_000008.9:g.10507880C>T NCBI36
NG_028035.1:g.47148G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1138G>A MANE Select ENSP00000371923.3:p.Gly380Arg
ENST00000382483.3:c.1138G>A ENSP00000371923.3:p.Gly380Arg
NM_178857.5:c.1138G>A NP_849188.4:p.Gly380Arg
NM_178857.6:c.1138G>A MANE Select NP_849188.4:p.Gly380Arg
Search 100 bp 5'
Search 100 bp 3'