Canonical Allele Identifier: CA952512

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs763197787
• ExAC: 1:93302965 A / T
• gnomAD v2: 1-93302965-A-T
• gnomAD v4: 1-92837408-A-T
• MyVariant Identifiers: chr1:g.93302965A>T (hg19) ; chr1:g.92837408A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837408A>T , CM000663.2:g.92837408A>T	GRCh38
NC_000001.10:g.93302965A>T , CM000663.1:g.93302965A>T	GRCh37
NC_000001.9:g.93075553A>T	NCBI36
NG_011779.1:g.10372A>T
NG_033051.1:g.129115T>A
NG_011779.2:g.10423A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.528-48A>T (RPL5) MANE Select	ENSP00000359345.2:n.528-48A>T
ENST00000645119.1:c.324+2495A>T (RPL5)	ENSP00000493811.1:n.324+2495A>T
ENST00000645300.1:c.378-48A>T (RPL5)	ENSP00000495589.1:n.378-48A>T
ENST00000645908.1:n.262-48A>T (RPL5)
ENST00000315741.5:c.378-48A>T (RPL5)	ENSP00000359338.2:n.378-48A>T
ENST00000370321.7:c.528-48A>T (RPL5)	ENSP00000359345.2:n.528-48A>T
ENST00000497519.1:n.799A>T (RPL5)
ENST00000615519.4:c.475-4374T>A (DIPK1A)	ENSP00000483279.1:n.475-4374T>A
NM_000969.3:c.528-48A>T (RPL5)	NP_000960.2:n.528-48A>T
NM_001252273.1:c.475-4374T>A (DIPK1A)	NP_001239202.1:n.475-4374T>A
NM_000969.5:c.528-48A>T (RPL5) MANE Select	NP_000960.2:n.528-48A>T
NR_146333.1:n.587-48A>T (RPL5)
NM_001252273.2:c.475-4374T>A (DIPK1A)	NP_001239202.1:n.475-4374T>A