Canonical Allele Identifier: CA370295994
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1315222879
gnomAD v4: 8-10612890-G-C
MyVariant Identifiers: chr8:g.10470400G>C (hg19) chr8:g.10612890G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612890G>C , CM000670.2:g.10612890G>C GRCh38
NC_000008.10:g.10470400G>C , CM000670.1:g.10470400G>C GRCh37
NC_000008.9:g.10507810G>C NCBI36
NG_028035.1:g.47218C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1208C>G MANE Select ENSP00000371923.3:p.Pro403Arg
ENST00000382483.3:c.1208C>G ENSP00000371923.3:p.Pro403Arg
NM_178857.5:c.1208C>G NP_849188.4:p.Pro403Arg
NM_178857.6:c.1208C>G MANE Select NP_849188.4:p.Pro403Arg
Search 100 bp 5'
Search 100 bp 3'