Canonical Allele Identifier: CA267570

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 100638
• ClinVar RCV Id: RCV000087038 ; RCV002444558
• dbSNP Id: rs587777117
• MyVariant Identifiers: chr1:g.93300390G>T (hg19) ; chr1:g.92834833G>T (hg38)
• PubMed: PMID:23718193

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92834833G>T , CM000663.2:g.92834833G>T	GRCh38
NC_000001.10:g.93300390G>T , CM000663.1:g.93300390G>T	GRCh37
NC_000001.9:g.93072978G>T	NCBI36
NG_011779.1:g.7797G>T
NG_033051.1:g.131690C>A
NG_011779.2:g.7848G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.244G>T (RPL5) MANE Select	ENSP00000359345.2:p.Glu82Ter
ENST00000645119.1:c.244G>T (RPL5)	ENSP00000493811.1:p.Glu82Ter
ENST00000645300.1:c.94G>T (RPL5)	ENSP00000495589.1:p.Glu32Ter
ENST00000646852.1:n.273G>T (RPL5)
ENST00000315741.5:c.94G>T (RPL5)	ENSP00000359338.2:p.Glu32Ter
ENST00000370321.7:c.244G>T (RPL5)	ENSP00000359345.2:p.Glu82Ter
ENST00000461952.1:n.954G>T (RPL5)
ENST00000470843.5:c.*206G>T (RPL5)	ENSP00000473675.1:n.*206G>T
ENST00000615519.4:c.475-1799C>A (DIPK1A)	ENSP00000483279.1:n.475-1799C>A
NM_000969.3:c.244G>T (RPL5)	NP_000960.2:p.Glu82Ter
NM_001252273.1:c.475-1799C>A (DIPK1A)	NP_001239202.1:n.475-1799C>A
NM_000969.5:c.244G>T (RPL5) MANE Select	NP_000960.2:p.Glu82Ter
NR_146333.1:n.373G>T (RPL5)
NM_001252273.2:c.475-1799C>A (DIPK1A)	NP_001239202.1:n.475-1799C>A