Canonical Allele Identifier: CA370300153
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2110252
ClinVar RCV Id: RCV003042267
dbSNP Id: rs1798084016
gnomAD v4: 8-10622760-G-C
MyVariant Identifiers: chr8:g.10480270G>C (hg19) chr8:g.10622760G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622760G>C , CM000670.2:g.10622760G>C GRCh38
NC_000008.10:g.10480270G>C , CM000670.1:g.10480270G>C GRCh37
NC_000008.9:g.10517680G>C NCBI36
NG_028035.1:g.37348C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.442C>G MANE Select ENSP00000371923.3:p.Leu148Val
ENST00000329335.3:n.692C>G
ENST00000382483.3:c.442C>G ENSP00000371923.3:p.Leu148Val
NM_178857.5:c.442C>G NP_849188.4:p.Leu148Val
NM_178857.6:c.442C>G MANE Select NP_849188.4:p.Leu148Val
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Search 100 bp 3'