Canonical Allele Identifier: CA370280052
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10465720G>C (hg19) chr8:g.10608210G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608210G>C , CM000670.2:g.10608210G>C GRCh38
NC_000008.10:g.10465720G>C , CM000670.1:g.10465720G>C GRCh37
NC_000008.9:g.10503130G>C NCBI36
NG_028035.1:g.51898C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.5888C>G MANE Select ENSP00000371923.3:p.Ser1963Cys
ENST00000382483.3:c.5888C>G ENSP00000371923.3:p.Ser1963Cys
NM_178857.5:c.5888C>G NP_849188.4:p.Ser1963Cys
NM_178857.6:c.5888C>G MANE Select NP_849188.4:p.Ser1963Cys
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