Canonical Allele Identifier: CA4625303
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361384
ClinVar RCV Id: RCV000385230 RCV002512094
dbSNP Id: rs372681428
ExAC: 8:10470480 G / C
gnomAD v2: 8-10470480-G-C
gnomAD v3: 8-10612970-G-C
gnomAD v4: 8-10612970-G-C
MyVariant Identifiers: chr8:g.10470480G>C (hg19) chr8:g.10612970G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612970G>C , CM000670.2:g.10612970G>C GRCh38
NC_000008.10:g.10470480G>C , CM000670.1:g.10470480G>C GRCh37
NC_000008.9:g.10507890G>C NCBI36
NG_028035.1:g.47138C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1128C>G MANE Select ENSP00000371923.3:p.Phe376Leu
ENST00000382483.3:c.1128C>G ENSP00000371923.3:p.Phe376Leu
NM_178857.5:c.1128C>G NP_849188.4:p.Phe376Leu
NM_178857.6:c.1128C>G MANE Select NP_849188.4:p.Phe376Leu
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