Canonical Allele Identifier: CA459619935
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10612565-C-T
MyVariant Identifiers: chr8:g.10470075C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612565C>T , CM000670.2:g.10612565C>T GRCh38
NC_000008.10:g.10470075C>T , CM000670.1:g.10470075C>T GRCh37
NC_000008.9:g.10507485C>T NCBI36
NG_028035.1:g.47543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1533G>A MANE Select ENSP00000371923.3:p.Gly511=
ENST00000382483.3:c.1533G>A ENSP00000371923.3:p.Gly511=
NM_178857.5:c.1533G>A NP_849188.4:p.Gly511=
NM_178857.6:c.1533G>A MANE Select NP_849188.4:p.Gly511=
Search 100 bp 5'
Search 100 bp 3'