Canonical Allele Identifier: CA4625664
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1419489
ClinVar RCV Id: RCV001910391
dbSNP Id: rs759265325
ExAC: 8:10480206 A / G
gnomAD v2: 8-10480206-A-G
gnomAD v3: 8-10622696-A-G
gnomAD v4: 8-10622696-A-G
MyVariant Identifiers: chr8:g.10480206A>G (hg19) chr8:g.10622696A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622696A>G , CM000670.2:g.10622696A>G GRCh38
NC_000008.10:g.10480206A>G , CM000670.1:g.10480206A>G GRCh37
NC_000008.9:g.10517616A>G NCBI36
NG_028035.1:g.37412T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.506T>C MANE Select ENSP00000371923.3:p.Val169Ala
ENST00000329335.3:n.756T>C
ENST00000382483.3:c.506T>C ENSP00000371923.3:p.Val169Ala
NM_178857.5:c.506T>C NP_849188.4:p.Val169Ala
NM_178857.6:c.506T>C MANE Select NP_849188.4:p.Val169Ala
Search 100 bp 5'
Search 100 bp 3'