Canonical Allele Identifier: CA341241934

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 1470854
• ClinVar RCV Id: RCV001964387 ; RCV002484862
• dbSNP Id: rs1687118423
• gnomAD v4: 1-92836209-T-C
• MyVariant Identifiers: chr1:g.93301766T>C (hg19) ; chr1:g.92836209T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92836209T>C , CM000663.2:g.92836209T>C	GRCh38
NC_000001.10:g.93301766T>C , CM000663.1:g.93301766T>C	GRCh37
NC_000001.9:g.93074354T>C	NCBI36
NG_011779.1:g.9173T>C
NG_033051.1:g.130314A>G
NG_011779.2:g.9224T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.344T>C (RPL5) MANE Select	ENSP00000359345.2:p.Met115Thr
ENST00000645119.1:c.324+1296T>C (RPL5)	ENSP00000493811.1:n.324+1296T>C
ENST00000645300.1:c.194T>C (RPL5)	ENSP00000495589.1:p.Met65Thr
ENST00000645908.1:n.78T>C (RPL5)
ENST00000315741.5:c.194T>C (RPL5)	ENSP00000359338.2:p.Met65Thr
ENST00000370321.7:c.344T>C (RPL5)	ENSP00000359345.2:p.Met115Thr
ENST00000461952.1:n.1054T>C (RPL5)
ENST00000470843.5:c.*306T>C (RPL5)	ENSP00000473675.1:n.*306T>C
ENST00000615519.4:c.475-3175A>G (DIPK1A)	ENSP00000483279.1:n.475-3175A>G
NM_000969.3:c.344T>C (RPL5)	NP_000960.2:p.Met115Thr
NM_001252273.1:c.475-3175A>G (DIPK1A)	NP_001239202.1:n.475-3175A>G
NM_000969.5:c.344T>C (RPL5) MANE Select	NP_000960.2:p.Met115Thr
NR_146333.1:n.421-18T>C (RPL5)
NM_001252273.2:c.475-3175A>G (DIPK1A)	NP_001239202.1:n.475-3175A>G