Canonical Allele Identifier: CA4625243
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3155799
ClinVar RCV Id: RCV004449608
dbSNP Id: rs566321002
ExAC: 8:10470340 C / T
gnomAD v2: 8-10470340-C-T
gnomAD v3: 8-10612830-C-T
gnomAD v4: 8-10612830-C-T
COSMIC: COSM1224161
MyVariant Identifiers: chr8:g.10470340C>T (hg19) chr8:g.10612830C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612830C>T , CM000670.2:g.10612830C>T GRCh38
NC_000008.10:g.10470340C>T , CM000670.1:g.10470340C>T GRCh37
NC_000008.9:g.10507750C>T NCBI36
NG_028035.1:g.47278G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1268G>A MANE Select ENSP00000371923.3:p.Arg423Gln
ENST00000382483.3:c.1268G>A ENSP00000371923.3:p.Arg423Gln
NM_178857.5:c.1268G>A NP_849188.4:p.Arg423Gln
NM_178857.6:c.1268G>A MANE Select NP_849188.4:p.Arg423Gln
Search 100 bp 5'
Search 100 bp 3'