Canonical Allele Identifier: CA10581818

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 238199
• ClinVar RCV Id: RCV000229721
• dbSNP Id: rs878854146
• MyVariant Identifiers: chr1:g.93301748T>C (hg19) ; chr1:g.92836191T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92836191T>C , CM000663.2:g.92836191T>C	GRCh38
NC_000001.10:g.93301748T>C , CM000663.1:g.93301748T>C	GRCh37
NC_000001.9:g.93074336T>C	NCBI36
NG_011779.1:g.9155T>C
NG_033051.1:g.130332A>G
NG_011779.2:g.9206T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.326T>C (RPL5) MANE Select	ENSP00000359345.2:p.Leu109Pro
ENST00000645119.1:c.324+1278T>C (RPL5)	ENSP00000493811.1:n.324+1278T>C
ENST00000645300.1:c.176T>C (RPL5)	ENSP00000495589.1:p.Leu59Pro
ENST00000645908.1:n.60T>C (RPL5)
ENST00000315741.5:c.176T>C (RPL5)	ENSP00000359338.2:p.Leu59Pro
ENST00000370321.7:c.326T>C (RPL5)	ENSP00000359345.2:p.Leu109Pro
ENST00000461952.1:n.1036T>C (RPL5)
ENST00000470843.5:c.*288T>C (RPL5)	ENSP00000473675.1:n.*288T>C
ENST00000615519.4:c.475-3157A>G (DIPK1A)	ENSP00000483279.1:n.475-3157A>G
NM_000969.3:c.326T>C (RPL5)	NP_000960.2:p.Leu109Pro
NM_001252273.1:c.475-3157A>G (DIPK1A)	NP_001239202.1:n.475-3157A>G
NM_000969.5:c.326T>C (RPL5) MANE Select	NP_000960.2:p.Leu109Pro
NR_146333.1:n.421-36T>C (RPL5)
NM_001252273.2:c.475-3157A>G (DIPK1A)	NP_001239202.1:n.475-3157A>G