Canonical Allele Identifier: CA418788749

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 2018732
• ClinVar RCV Id: RCV002862206 ; RCV003134511
• MyVariant Identifiers: chr1:g.93299014A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92833457A>G , CM000663.2:g.92833457A>G	GRCh38
NC_000001.10:g.93299014A>G , CM000663.1:g.93299014A>G	GRCh37
NC_000001.9:g.93071602A>G	NCBI36
NG_011779.1:g.6421A>G
NG_033051.1:g.133066T>C
NG_011779.2:g.6472A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.72A>G (RPL5) MANE Select	ENSP00000359345.2:p.Arg24=
ENST00000645119.1:c.72A>G (RPL5)	ENSP00000493811.1:p.Arg24=
ENST00000645300.1:c.-77-88A>G (RPL5)	ENSP00000495589.1:n.-77-88A>G
ENST00000646852.1:n.101A>G (RPL5)
ENST00000315741.5:c.-79A>G (RPL5)	ENSP00000359338.2:n.-79A>G
ENST00000370321.7:c.72A>G (RPL5)	ENSP00000359345.2:p.Arg24=
ENST00000461952.1:n.696A>G (RPL5)
ENST00000470843.5:c.72A>G (RPL5)	ENSP00000473675.1:p.Arg24=
ENST00000615519.4:c.475-423T>C (DIPK1A)	ENSP00000483279.1:n.475-423T>C
NM_000969.3:c.72A>G (RPL5)	NP_000960.2:p.Arg24=
NM_001252273.1:c.475-423T>C (DIPK1A)	NP_001239202.1:n.475-423T>C
NM_000969.5:c.72A>G (RPL5) MANE Select	NP_000960.2:p.Arg24=
NR_146333.1:n.201A>G (RPL5)
NM_001252273.2:c.475-423T>C (DIPK1A)	NP_001239202.1:n.475-423T>C