Canonical Allele Identifier: CA4625712
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361412
ClinVar RCV Id: RCV000308962 RCV000893307 RCV001729566 RCV003888888
dbSNP Id: rs201192645
ExAC: 8:10480295 T / TG
gnomAD v2: 8-10480295-T-TG
gnomAD v3: 8-10622785-T-TG
gnomAD v4: 8-10622785-T-TG
MyVariant Identifiers: chr8:g.10480296dupG (hg19) chr8:g.10480295_10480296insG (hg19) chr8:g.10622786dupG (hg38) chr8:g.10622785_10622786insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622789dup , CM000670.2:g.10622789dup GRCh38
NC_000008.10:g.10480299dup , CM000670.1:g.10480299dup GRCh37
NC_000008.9:g.10517709dup NCBI36
NG_028035.1:g.37322dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.416dup MANE Select ENSP00000371923.3:p.Gly140ArgfsTer10
ENST00000329335.3:n.666dup
ENST00000382483.3:c.416dup ENSP00000371923.3:p.Gly140ArgfsTer10
NM_178857.5:c.416dup NP_849188.4:p.Gly140ArgfsTer10
NM_178857.6:c.416dup MANE Select NP_849188.4:p.Gly140ArgfsTer10
Search 100 bp 5'
Search 100 bp 3'