Canonical Allele Identifier: CA4625756
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1350353
ClinVar RCV Id: RCV002039683
dbSNP Id: rs536817048
ExAC: 8:10480383 G / C
gnomAD v2: 8-10480383-G-C
gnomAD v3: 8-10622873-G-C
gnomAD v4: 8-10622873-G-C
MyVariant Identifiers: chr8:g.10480383G>C (hg19) chr8:g.10622873G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622873G>C , CM000670.2:g.10622873G>C GRCh38
NC_000008.10:g.10480383G>C , CM000670.1:g.10480383G>C GRCh37
NC_000008.9:g.10517793G>C NCBI36
NG_028035.1:g.37235C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.329C>G MANE Select ENSP00000371923.3:p.Pro110Arg
ENST00000329335.3:n.579C>G
ENST00000382483.3:c.329C>G ENSP00000371923.3:p.Pro110Arg
NM_178857.5:c.329C>G NP_849188.4:p.Pro110Arg
NM_178857.6:c.329C>G MANE Select NP_849188.4:p.Pro110Arg
Search 100 bp 5'
Search 100 bp 3'