Canonical Allele Identifier: CA4625720
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1354404
ClinVar RCV Id: RCV001866399
dbSNP Id: rs781222519
ExAC: 8:10480306 G / A
gnomAD v2: 8-10480306-G-A
gnomAD v4: 8-10622796-G-A
MyVariant Identifiers: chr8:g.10480306G>A (hg19) chr8:g.10622796G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622796G>A , CM000670.2:g.10622796G>A GRCh38
NC_000008.10:g.10480306G>A , CM000670.1:g.10480306G>A GRCh37
NC_000008.9:g.10517716G>A NCBI36
NG_028035.1:g.37312C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.406C>T MANE Select ENSP00000371923.3:p.Arg136Cys
ENST00000329335.3:n.656C>T
ENST00000382483.3:c.406C>T ENSP00000371923.3:p.Arg136Cys
NM_178857.5:c.406C>T NP_849188.4:p.Arg136Cys
NM_178857.6:c.406C>T MANE Select NP_849188.4:p.Arg136Cys
Search 100 bp 5'
Search 100 bp 3'