Canonical Allele Identifier: CA459620125
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3028062
ClinVar RCV Id: RCV003889432
MyVariant Identifiers: chr8:g.10480211T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622701T>A , CM000670.2:g.10622701T>A GRCh38
NC_000008.10:g.10480211T>A , CM000670.1:g.10480211T>A GRCh37
NC_000008.9:g.10517621T>A NCBI36
NG_028035.1:g.37407A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.501A>T MANE Select ENSP00000371923.3:p.Thr167=
ENST00000329335.3:n.751A>T
ENST00000382483.3:c.501A>T ENSP00000371923.3:p.Thr167=
NM_178857.5:c.501A>T NP_849188.4:p.Thr167=
NM_178857.6:c.501A>T MANE Select NP_849188.4:p.Thr167=