Canonical Allele Identifier: CA370295368
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1797885579
gnomAD v4: 8-10612584-A-G
MyVariant Identifiers: chr8:g.10470094A>G (hg19) chr8:g.10612584A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612584A>G , CM000670.2:g.10612584A>G GRCh38
NC_000008.10:g.10470094A>G , CM000670.1:g.10470094A>G GRCh37
NC_000008.9:g.10507504A>G NCBI36
NG_028035.1:g.47524T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1514T>C MANE Select ENSP00000371923.3:p.Leu505Pro
ENST00000382483.3:c.1514T>C ENSP00000371923.3:p.Leu505Pro
NM_178857.5:c.1514T>C NP_849188.4:p.Leu505Pro
NM_178857.6:c.1514T>C MANE Select NP_849188.4:p.Leu505Pro
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