Canonical Allele Identifier: CA16603764

Linked Data

ClinVar Variation Id: 379826
ClinVar RCV Id: RCV000441812
dbSNP Id: rs1057520746

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837463C>T , CM000663.2:g.92837463C>T GRCh38
NC_000001.10:g.93303020C>T , CM000663.1:g.93303020C>T GRCh37
NC_000001.9:g.93075608C>T NCBI36
NG_011779.1:g.10427C>T
NG_033051.1:g.129060G>A
NG_011779.2:g.10478C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370321.8:c.535C>T (RPL5) MANE Select ENSP00000359345.2:p.Arg179Ter
ENST00000645119.1:c.324+2550C>T (RPL5) ENSP00000493811.1:n.324+2550C>T
ENST00000645300.1:c.385C>T (RPL5) ENSP00000495589.1:p.Arg129Ter
ENST00000645908.1:n.269C>T (RPL5)
ENST00000315741.5:c.385C>T (RPL5) ENSP00000359338.2:p.Arg129Ter
ENST00000370321.7:c.535C>T (RPL5) ENSP00000359345.2:p.Arg179Ter
ENST00000497519.1:n.854C>T (RPL5)
ENST00000615519.4:c.475-4429G>A (DIPK1A) ENSP00000483279.1:n.475-4429G>A
NM_000969.3:c.535C>T (RPL5) NP_000960.2:p.Arg179Ter
NM_001252273.1:c.475-4429G>A (DIPK1A) NP_001239202.1:n.475-4429G>A
NM_000969.5:c.535C>T (RPL5) MANE Select NP_000960.2:p.Arg179Ter
NR_146333.1:n.594C>T (RPL5)
NM_001252273.2:c.475-4429G>A (DIPK1A) NP_001239202.1:n.475-4429G>A