Canonical Allele Identifier: CA2574434447

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 2770706
• ClinVar RCV Id: RCV003507927
• gnomAD v4: 1-92833468-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92833468C>T , CM000663.2:g.92833468C>T	GRCh38
NC_000001.10:g.93299025C>T , CM000663.1:g.93299025C>T	GRCh37
NC_000001.9:g.93071613C>T	NCBI36
NG_011779.1:g.6432C>T
NG_033051.1:g.133055G>A
NG_011779.2:g.6483C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.73+10C>T (RPL5) MANE Select	ENSP00000359345.2:n.73+10C>T
ENST00000645119.1:c.73+10C>T (RPL5)	ENSP00000493811.1:n.73+10C>T
ENST00000645300.1:c.-77-77C>T (RPL5)	ENSP00000495589.1:n.-77-77C>T
ENST00000646852.1:n.102+10C>T (RPL5)
ENST00000315741.5:c.-78+10C>T (RPL5)	ENSP00000359338.2:n.-78+10C>T
ENST00000370321.7:c.73+10C>T (RPL5)	ENSP00000359345.2:n.73+10C>T
ENST00000461952.1:n.707C>T (RPL5)
ENST00000470843.5:c.73+10C>T (RPL5)	ENSP00000473675.1:n.73+10C>T
ENST00000615519.4:c.475-434G>A (DIPK1A)	ENSP00000483279.1:n.475-434G>A
NM_000969.3:c.73+10C>T (RPL5)	NP_000960.2:n.73+10C>T
NM_001252273.1:c.475-434G>A (DIPK1A)	NP_001239202.1:n.475-434G>A
NM_000969.5:c.73+10C>T (RPL5) MANE Select	NP_000960.2:n.73+10C>T
NR_146333.1:n.202+10C>T (RPL5)
NM_001252273.2:c.475-434G>A (DIPK1A)	NP_001239202.1:n.475-434G>A