Canonical Allele Identifier: CA952345

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 2718547
• ClinVar RCV Id: RCV003508402
• dbSNP Id: rs771831213
• ExAC: 1:93298929 A / T
• gnomAD v2: 1-93298929-A-T
• gnomAD v3: 1-92833372-A-T
• gnomAD v4: 1-92833372-A-T
• MyVariant Identifiers: chr1:g.93298929A>T (hg19) ; chr1:g.92833372A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92833372A>T , CM000663.2:g.92833372A>T	GRCh38
NC_000001.10:g.93298929A>T , CM000663.1:g.93298929A>T	GRCh37
NC_000001.9:g.93071517A>T	NCBI36
NG_011779.1:g.6336A>T
NG_033051.1:g.133151T>A
NG_011779.2:g.6387A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.4-17A>T (RPL5) MANE Select	ENSP00000359345.2:n.4-17A>T
ENST00000645119.1:c.4-17A>T (RPL5)	ENSP00000493811.1:n.4-17A>T
ENST00000645300.1:c.-77-173A>T (RPL5)	ENSP00000495589.1:n.-77-173A>T
ENST00000646852.1:n.33-17A>T (RPL5)
ENST00000315741.5:c.-147-17A>T (RPL5)	ENSP00000359338.2:n.-147-17A>T
ENST00000370321.7:c.4-17A>T (RPL5)	ENSP00000359345.2:n.4-17A>T
ENST00000461952.1:n.611A>T (RPL5)
ENST00000470843.5:c.4-17A>T (RPL5)	ENSP00000473675.1:n.4-17A>T
ENST00000615519.4:c.475-338T>A (DIPK1A)	ENSP00000483279.1:n.475-338T>A
NM_000969.3:c.4-17A>T (RPL5)	NP_000960.2:n.4-17A>T
NM_001252273.1:c.475-338T>A (DIPK1A)	NP_001239202.1:n.475-338T>A
NM_000969.5:c.4-17A>T (RPL5) MANE Select	NP_000960.2:n.4-17A>T
NR_146333.1:n.133-17A>T (RPL5)
NM_001252273.2:c.475-338T>A (DIPK1A)	NP_001239202.1:n.475-338T>A