Canonical Allele Identifier: CA952529

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 238200
• ClinVar RCV Id: RCV000233634 ; RCV000503324 ; RCV000513699 ; RCV000986343 ; RCV001093892
• dbSNP Id: rs11540832
• ExAC: 1:93303114 A / G
• gnomAD v2: 1-93303114-A-G
• gnomAD v3: 1-92837557-A-G
• gnomAD v4: 1-92837557-A-G
• MyVariant Identifiers: chr1:g.93303114A>G (hg19) ; chr1:g.92837557A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837557A>G , CM000663.2:g.92837557A>G	GRCh38
NC_000001.10:g.93303114A>G , CM000663.1:g.93303114A>G	GRCh37
NC_000001.9:g.93075702A>G	NCBI36
NG_011779.1:g.10521A>G
NG_033051.1:g.128966T>C
NG_011779.2:g.10572A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.629A>G (RPL5) MANE Select	ENSP00000359345.2:p.Tyr210Cys
ENST00000645119.1:c.324+2644A>G (RPL5)	ENSP00000493811.1:n.324+2644A>G
ENST00000645300.1:c.479A>G (RPL5)	ENSP00000495589.1:p.Tyr160Cys
ENST00000645908.1:n.363A>G (RPL5)
ENST00000370321.7:c.629A>G (RPL5)	ENSP00000359345.2:p.Tyr210Cys
ENST00000497519.1:n.948A>G (RPL5)
ENST00000615519.4:c.475-4523T>C (DIPK1A)	ENSP00000483279.1:n.475-4523T>C
NM_000969.3:c.629A>G (RPL5)	NP_000960.2:p.Tyr210Cys
NM_001252273.1:c.475-4523T>C (DIPK1A)	NP_001239202.1:n.475-4523T>C
NM_000969.5:c.629A>G (RPL5) MANE Select	NP_000960.2:p.Tyr210Cys
NR_146333.1:n.688A>G (RPL5)
NM_001252273.2:c.475-4523T>C (DIPK1A)	NP_001239202.1:n.475-4523T>C