Canonical Allele Identifier: CA115399
Gene: RP1L1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2194
ClinVar RCV Id: RCV000002278
dbSNP Id: rs267607018

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10611220A>G , CM000670.2:g.10611220A>G GRCh38
NC_000008.10:g.10468730A>G , CM000670.1:g.10468730A>G GRCh37
NC_000008.9:g.10506140A>G NCBI36
NG_028035.1:g.48888T>C

Transcript Alleles

HGVS Amino-acid change
NM_178857.5:c.2878T>C VV NP_849188.4:p.Trp960Arg
NM_178857.6:c.2878T>C VV MANE Preferred NP_849188.4:p.Trp960Arg
ENST00000382483.3:c.2878T>C ENSP00000371923.3:p.Trp960Arg