Canonical Allele Identifier: CA4625234
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361379
ClinVar RCV Id: RCV000267172 RCV003430943
dbSNP Id: rs199589914
ExAC: 8:10470311 G / A
gnomAD v2: 8-10470311-G-A
gnomAD v3: 8-10612801-G-A
gnomAD v4: 8-10612801-G-A
COSMIC: COSM1453874
MyVariant Identifiers: chr8:g.10470311G>A (hg19) chr8:g.10612801G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612801G>A , CM000670.2:g.10612801G>A GRCh38
NC_000008.10:g.10470311G>A , CM000670.1:g.10470311G>A GRCh37
NC_000008.9:g.10507721G>A NCBI36
NG_028035.1:g.47307C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1297C>T MANE Select ENSP00000371923.3:p.Arg433Cys
ENST00000382483.3:c.1297C>T ENSP00000371923.3:p.Arg433Cys
NM_178857.5:c.1297C>T NP_849188.4:p.Arg433Cys
NM_178857.6:c.1297C>T MANE Select NP_849188.4:p.Arg433Cys
Search 100 bp 5'
Search 100 bp 3'