Canonical Allele Identifier: CA4625704
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1367815
ClinVar RCV Id: RCV001947489
dbSNP Id: rs749098420
ExAC: 8:10480279 G / A
gnomAD v2: 8-10480279-G-A
gnomAD v4: 8-10622769-G-A
COSMIC: COSM3884337
MyVariant Identifiers: chr8:g.10480279G>A (hg19) chr8:g.10480279_10480282delinsAGGA (hg19) chr8:g.10622769G>A (hg38) chr8:g.10622769_10622772delinsAGGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622769G>A , CM000670.2:g.10622769G>A GRCh38
NC_000008.10:g.10480279G>A , CM000670.1:g.10480279G>A GRCh37
NC_000008.9:g.10517689G>A NCBI36
NG_028035.1:g.37339C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.433C>T MANE Select ENSP00000371923.3:p.Arg145Trp
ENST00000329335.3:n.683C>T
ENST00000382483.3:c.433C>T ENSP00000371923.3:p.Arg145Trp
NM_178857.5:c.433C>T NP_849188.4:p.Arg145Trp
NM_178857.6:c.433C>T MANE Select NP_849188.4:p.Arg145Trp
Search 100 bp 5'
Search 100 bp 3'