Canonical Allele Identifier: CA370295520
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10612665-T-C
MyVariant Identifiers: chr8:g.10470175T>C (hg19) chr8:g.10612665T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612665T>C , CM000670.2:g.10612665T>C GRCh38
NC_000008.10:g.10470175T>C , CM000670.1:g.10470175T>C GRCh37
NC_000008.9:g.10507585T>C NCBI36
NG_028035.1:g.47443A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.1433A>G MANE Select ENSP00000371923.3:p.Asp478Gly
ENST00000382483.3:c.1433A>G ENSP00000371923.3:p.Asp478Gly
NM_178857.5:c.1433A>G NP_849188.4:p.Asp478Gly
NM_178857.6:c.1433A>G MANE Select NP_849188.4:p.Asp478Gly
Search 100 bp 5'
Search 100 bp 3'