Canonical Allele Identifier: CA341242951

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 656230
• ClinVar RCV Id: RCV000812596 ; RCV003151156
• dbSNP Id: rs1571031819
• gnomAD v4: 1-92837541-G-A
• MyVariant Identifiers: chr1:g.93303098G>A (hg19) ; chr1:g.92837541G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837541G>A , CM000663.2:g.92837541G>A	GRCh38
NC_000001.10:g.93303098G>A , CM000663.1:g.93303098G>A	GRCh37
NC_000001.9:g.93075686G>A	NCBI36
NG_011779.1:g.10505G>A
NG_033051.1:g.128982C>T
NG_011779.2:g.10556G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.613G>A (RPL5) MANE Select	ENSP00000359345.2:p.Ala205Thr
ENST00000645119.1:c.324+2628G>A (RPL5)	ENSP00000493811.1:n.324+2628G>A
ENST00000645300.1:c.463G>A (RPL5)	ENSP00000495589.1:p.Ala155Thr
ENST00000645908.1:n.347G>A (RPL5)
ENST00000370321.7:c.613G>A (RPL5)	ENSP00000359345.2:p.Ala205Thr
ENST00000497519.1:n.932G>A (RPL5)
ENST00000615519.4:c.475-4507C>T (DIPK1A)	ENSP00000483279.1:n.475-4507C>T
NM_000969.3:c.613G>A (RPL5)	NP_000960.2:p.Ala205Thr
NM_001252273.1:c.475-4507C>T (DIPK1A)	NP_001239202.1:n.475-4507C>T
NM_000969.5:c.613G>A (RPL5) MANE Select	NP_000960.2:p.Ala205Thr
NR_146333.1:n.672G>A (RPL5)
NM_001252273.2:c.475-4507C>T (DIPK1A)	NP_001239202.1:n.475-4507C>T