Canonical Allele Identifier: CA370295482
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10612646-G-T
MyVariant Identifiers: chr8:g.10470156G>T (hg19) chr8:g.10612646G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612646G>T , CM000670.2:g.10612646G>T GRCh38
NC_000008.10:g.10470156G>T , CM000670.1:g.10470156G>T GRCh37
NC_000008.9:g.10507566G>T NCBI36
NG_028035.1:g.47462C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1452C>A MANE Select ENSP00000371923.3:p.Ser484Arg
ENST00000382483.3:c.1452C>A ENSP00000371923.3:p.Ser484Arg
NM_178857.5:c.1452C>A NP_849188.4:p.Ser484Arg
NM_178857.6:c.1452C>A MANE Select NP_849188.4:p.Ser484Arg
Search 100 bp 5'
Search 100 bp 3'