Canonical Allele Identifier: CA4625633
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1436902
ClinVar RCV Id: RCV001955369
dbSNP Id: rs757917733
gnomAD v2: 8-10480119-G-A
gnomAD v3: 8-10622609-G-A
gnomAD v4: 8-10622609-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622609G>A , CM000670.2:g.10622609G>A GRCh38
NC_000008.10:g.10480119G>A , CM000670.1:g.10480119G>A GRCh37
NC_000008.9:g.10517529G>A NCBI36
NG_028035.1:g.37499C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.593C>T MANE Select ENSP00000371923.3:p.Thr198Met
ENST00000329335.3:n.843C>T
ENST00000382483.3:c.593C>T ENSP00000371923.3:p.Thr198Met
NM_178857.5:c.593C>T NP_849188.4:p.Thr198Met
NM_178857.6:c.593C>T MANE Select NP_849188.4:p.Thr198Met