Canonical Allele Identifier: CA370300208
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2125973
ClinVar RCV Id: RCV003049841
dbSNP Id: rs374879431
gnomAD v3: 8-10622778-A-T
gnomAD v4: 8-10622778-A-T
MyVariant Identifiers: chr8:g.10480288A>T (hg19) chr8:g.10622778A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622778A>T , CM000670.2:g.10622778A>T GRCh38
NC_000008.10:g.10480288A>T , CM000670.1:g.10480288A>T GRCh37
NC_000008.9:g.10517698A>T NCBI36
NG_028035.1:g.37330T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.424T>A MANE Select ENSP00000371923.3:p.Ser142Thr
ENST00000329335.3:n.674T>A
ENST00000382483.3:c.424T>A ENSP00000371923.3:p.Ser142Thr
NM_178857.5:c.424T>A NP_849188.4:p.Ser142Thr
NM_178857.6:c.424T>A MANE Select NP_849188.4:p.Ser142Thr
Search 100 bp 5'
Search 100 bp 3'