Canonical Allele Identifier: CA4625754
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2427926
ClinVar RCV Id: RCV003116897
dbSNP Id: rs769237488
ExAC: 8:10480382 G / C
gnomAD v2: 8-10480382-G-C
gnomAD v4: 8-10622872-G-C
MyVariant Identifiers: chr8:g.10480382G>C (hg19) chr8:g.10622872G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622872G>C , CM000670.2:g.10622872G>C GRCh38
NC_000008.10:g.10480382G>C , CM000670.1:g.10480382G>C GRCh37
NC_000008.9:g.10517792G>C NCBI36
NG_028035.1:g.37236C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.330C>G MANE Select ENSP00000371923.3:p.Pro110=
ENST00000329335.3:n.580C>G
ENST00000382483.3:c.330C>G ENSP00000371923.3:p.Pro110=
NM_178857.5:c.330C>G NP_849188.4:p.Pro110=
NM_178857.6:c.330C>G MANE Select NP_849188.4:p.Pro110=
Search 100 bp 5'
Search 100 bp 3'