Canonical Allele Identifier: CA952524

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 1346567
• ClinVar RCV Id: RCV002041441 ; RCV002503350
• dbSNP Id: rs771013653
• ExAC: 1:93303072 G / A
• gnomAD v2: 1-93303072-G-A
• gnomAD v3: 1-92837515-G-A
• gnomAD v4: 1-92837515-G-A
• COSMIC: COSM6237551
• MyVariant Identifiers: chr1:g.93303072G>A (hg19) ; chr1:g.92837515G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837515G>A , CM000663.2:g.92837515G>A	GRCh38
NC_000001.10:g.93303072G>A , CM000663.1:g.93303072G>A	GRCh37
NC_000001.9:g.93075660G>A	NCBI36
NG_011779.1:g.10479G>A
NG_033051.1:g.129008C>T
NG_011779.2:g.10530G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.587G>A (RPL5) MANE Select	ENSP00000359345.2:p.Arg196Gln
ENST00000645119.1:c.324+2602G>A (RPL5)	ENSP00000493811.1:n.324+2602G>A
ENST00000645300.1:c.437G>A (RPL5)	ENSP00000495589.1:p.Arg146Gln
ENST00000645908.1:n.321G>A (RPL5)
ENST00000370321.7:c.587G>A (RPL5)	ENSP00000359345.2:p.Arg196Gln
ENST00000497519.1:n.906G>A (RPL5)
ENST00000615519.4:c.475-4481C>T (DIPK1A)	ENSP00000483279.1:n.475-4481C>T
NM_000969.3:c.587G>A (RPL5)	NP_000960.2:p.Arg196Gln
NM_001252273.1:c.475-4481C>T (DIPK1A)	NP_001239202.1:n.475-4481C>T
NM_000969.5:c.587G>A (RPL5) MANE Select	NP_000960.2:p.Arg196Gln
NR_146333.1:n.646G>A (RPL5)
NM_001252273.2:c.475-4481C>T (DIPK1A)	NP_001239202.1:n.475-4481C>T