Canonical Allele Identifier: CA4625666
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1461456
ClinVar RCV Id: RCV001965857
dbSNP Id: rs775422104
ExAC: 8:10480212 G / T
gnomAD v2: 8-10480212-G-T
gnomAD v3: 8-10622702-G-T
gnomAD v4: 8-10622702-G-T
MyVariant Identifiers: chr8:g.10480212G>T (hg19) chr8:g.10622702G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622702G>T , CM000670.2:g.10622702G>T GRCh38
NC_000008.10:g.10480212G>T , CM000670.1:g.10480212G>T GRCh37
NC_000008.9:g.10517622G>T NCBI36
NG_028035.1:g.37406C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.500C>A MANE Select ENSP00000371923.3:p.Thr167Lys
ENST00000329335.3:n.750C>A
ENST00000382483.3:c.500C>A ENSP00000371923.3:p.Thr167Lys
NM_178857.5:c.500C>A NP_849188.4:p.Thr167Lys
NM_178857.6:c.500C>A MANE Select NP_849188.4:p.Thr167Lys
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