Canonical Allele Identifier: CA370295543
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10612676-C-G
MyVariant Identifiers: chr8:g.10470186C>G (hg19) chr8:g.10612676C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612676C>G , CM000670.2:g.10612676C>G GRCh38
NC_000008.10:g.10470186C>G , CM000670.1:g.10470186C>G GRCh37
NC_000008.9:g.10507596C>G NCBI36
NG_028035.1:g.47432G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.1422G>C MANE Select ENSP00000371923.3:p.Arg474Ser
ENST00000382483.3:c.1422G>C ENSP00000371923.3:p.Arg474Ser
NM_178857.5:c.1422G>C NP_849188.4:p.Arg474Ser
NM_178857.6:c.1422G>C MANE Select NP_849188.4:p.Arg474Ser
Search 100 bp 5'
Search 100 bp 3'