Canonical Allele Identifier: CA952527

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 953671
• ClinVar RCV Id: RCV001226000 ; RCV002484225
• dbSNP Id: rs770095159
• ExAC: 1:93303110 C / T
• gnomAD v2: 1-93303110-C-T
• gnomAD v3: 1-92837553-C-T
• gnomAD v4: 1-92837553-C-T
• COSMIC: COSM6232952
• MyVariant Identifiers: chr1:g.93303110C>T (hg19) ; chr1:g.92837553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837553C>T , CM000663.2:g.92837553C>T	GRCh38
NC_000001.10:g.93303110C>T , CM000663.1:g.93303110C>T	GRCh37
NC_000001.9:g.93075698C>T	NCBI36
NG_011779.1:g.10517C>T
NG_033051.1:g.128970G>A
NG_011779.2:g.10568C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.625C>T (RPL5) MANE Select	ENSP00000359345.2:p.Arg209Cys
ENST00000645119.1:c.324+2640C>T (RPL5)	ENSP00000493811.1:n.324+2640C>T
ENST00000645300.1:c.475C>T (RPL5)	ENSP00000495589.1:p.Arg159Cys
ENST00000645908.1:n.359C>T (RPL5)
ENST00000370321.7:c.625C>T (RPL5)	ENSP00000359345.2:p.Arg209Cys
ENST00000497519.1:n.944C>T (RPL5)
ENST00000615519.4:c.475-4519G>A (DIPK1A)	ENSP00000483279.1:n.475-4519G>A
NM_000969.3:c.625C>T (RPL5)	NP_000960.2:p.Arg209Cys
NM_001252273.1:c.475-4519G>A (DIPK1A)	NP_001239202.1:n.475-4519G>A
NM_000969.5:c.625C>T (RPL5) MANE Select	NP_000960.2:p.Arg209Cys
NR_146333.1:n.684C>T (RPL5)
NM_001252273.2:c.475-4519G>A (DIPK1A)	NP_001239202.1:n.475-4519G>A