Canonical Allele Identifier: CA10629800
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361297
ClinVar RCV Id: RCV000315863 RCV001355893 RCV001528387 RCV001796009
dbSNP Id: rs4240659
gnomAD v3: 8-10610127-T-C
gnomAD v4: 8-10610127-T-C
MyVariant Identifiers: chr8:g.10467637T>C (hg19) chr8:g.10610127T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10610127T>C , CM000670.2:g.10610127T>C GRCh38
NC_000008.10:g.10467637T>C , CM000670.1:g.10467637T>C GRCh37
NC_000008.9:g.10505047T>C NCBI36
NG_028035.1:g.49981A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.3971A>G MANE Select ENSP00000371923.3:p.Glu1324Gly
ENST00000382483.3:c.3971A>G ENSP00000371923.3:p.Glu1324Gly
NM_178857.5:c.3971A>G NP_849188.4:p.Glu1324Gly
NM_178857.6:c.3971A>G MANE Select NP_849188.4:p.Glu1324Gly
Search 100 bp 5'
Search 100 bp 3'