Canonical Allele Identifier: CA370299981
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1372901
ClinVar RCV Id: RCV001874917 RCV003355594
dbSNP Id: rs762735738
gnomAD v4: 8-10622703-T-A
MyVariant Identifiers: chr8:g.10480213T>A (hg19) chr8:g.10622703T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622703T>A , CM000670.2:g.10622703T>A GRCh38
NC_000008.10:g.10480213T>A , CM000670.1:g.10480213T>A GRCh37
NC_000008.9:g.10517623T>A NCBI36
NG_028035.1:g.37405A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.499A>T MANE Select ENSP00000371923.3:p.Thr167Ser
ENST00000329335.3:n.749A>T
ENST00000382483.3:c.499A>T ENSP00000371923.3:p.Thr167Ser
NM_178857.5:c.499A>T NP_849188.4:p.Thr167Ser
NM_178857.6:c.499A>T MANE Select NP_849188.4:p.Thr167Ser
Search 100 bp 5'
Search 100 bp 3'