Canonical Allele Identifier: CA2580063324

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 2145101
• ClinVar RCV Id: RCV003064854
• gnomAD v4: 1-92837436-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837436T>C , CM000663.2:g.92837436T>C	GRCh38
NC_000001.10:g.93302993T>C , CM000663.1:g.93302993T>C	GRCh37
NC_000001.9:g.93075581T>C	NCBI36
NG_011779.1:g.10400T>C
NG_033051.1:g.129087A>G
NG_011779.2:g.10451T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.528-20T>C (RPL5) MANE Select	ENSP00000359345.2:n.528-20T>C
ENST00000645119.1:c.324+2523T>C (RPL5)	ENSP00000493811.1:n.324+2523T>C
ENST00000645300.1:c.378-20T>C (RPL5)	ENSP00000495589.1:n.378-20T>C
ENST00000645908.1:n.262-20T>C (RPL5)
ENST00000315741.5:c.378-20T>C (RPL5)	ENSP00000359338.2:n.378-20T>C
ENST00000370321.7:c.528-20T>C (RPL5)	ENSP00000359345.2:n.528-20T>C
ENST00000497519.1:n.827T>C (RPL5)
ENST00000615519.4:c.475-4402A>G (DIPK1A)	ENSP00000483279.1:n.475-4402A>G
NM_000969.3:c.528-20T>C (RPL5)	NP_000960.2:n.528-20T>C
NM_001252273.1:c.475-4402A>G (DIPK1A)	NP_001239202.1:n.475-4402A>G
NM_000969.5:c.528-20T>C (RPL5) MANE Select	NP_000960.2:n.528-20T>C
NR_146333.1:n.587-20T>C (RPL5)
NM_001252273.2:c.475-4402A>G (DIPK1A)	NP_001239202.1:n.475-4402A>G