Canonical Allele Identifier: CA370299991
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1716803
ClinVar RCV Id: RCV002304718
dbSNP Id: rs1798082075
MyVariant Identifiers: chr8:g.10480216G>C (hg19) chr8:g.10622706G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622706G>C , CM000670.2:g.10622706G>C GRCh38
NC_000008.10:g.10480216G>C , CM000670.1:g.10480216G>C GRCh37
NC_000008.9:g.10517626G>C NCBI36
NG_028035.1:g.37402C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.496C>G MANE Select ENSP00000371923.3:p.Gln166Glu
ENST00000329335.3:n.746C>G
ENST00000382483.3:c.496C>G ENSP00000371923.3:p.Gln166Glu
NM_178857.5:c.496C>G NP_849188.4:p.Gln166Glu
NM_178857.6:c.496C>G MANE Select NP_849188.4:p.Gln166Glu
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