Canonical Allele Identifier: CA370300060
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1470816
ClinVar RCV Id: RCV001964368
dbSNP Id: rs1337509737
gnomAD v2: 8-10480239-T-C
gnomAD v4: 8-10622729-T-C
MyVariant Identifiers: chr8:g.10480239T>C (hg19) chr8:g.10622729T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622729T>C , CM000670.2:g.10622729T>C GRCh38
NC_000008.10:g.10480239T>C , CM000670.1:g.10480239T>C GRCh37
NC_000008.9:g.10517649T>C NCBI36
NG_028035.1:g.37379A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.473A>G MANE Select ENSP00000371923.3:p.Lys158Arg
ENST00000329335.3:n.723A>G
ENST00000382483.3:c.473A>G ENSP00000371923.3:p.Lys158Arg
NM_178857.5:c.473A>G NP_849188.4:p.Lys158Arg
NM_178857.6:c.473A>G MANE Select NP_849188.4:p.Lys158Arg
Search 100 bp 5'
Search 100 bp 3'