Canonical Allele Identifier: CA845135652
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1258162965
gnomAD v3: 8-10622500-C-CT
gnomAD v4: 8-10622500-C-CT
MyVariant Identifiers: chr8:g.10480010_10480011insT (hg19) chr8:g.10622500_10622501insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622505dup , CM000670.2:g.10622505dup GRCh38
NC_000008.10:g.10480015dup , CM000670.1:g.10480015dup GRCh37
NC_000008.9:g.10517425dup NCBI36
NG_028035.1:g.37607dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+92dup MANE Select ENSP00000371923.3:n.609+92dup
ENST00000329335.3:n.859+92dup
ENST00000382483.3:c.609+92dup ENSP00000371923.3:n.609+92dup
NM_178857.5:c.609+92dup NP_849188.4:n.609+92dup
NM_178857.6:c.609+92dup MANE Select NP_849188.4:n.609+92dup
Search 100 bp 5'
Search 100 bp 3'