Canonical Allele Identifier: CA952522

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs778891633
• ExAC: 1:93303060 C / T
• gnomAD v2: 1-93303060-C-T
• gnomAD v4: 1-92837503-C-T
• MyVariant Identifiers: chr1:g.93303060C>T (hg19) ; chr1:g.92837503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837503C>T , CM000663.2:g.92837503C>T	GRCh38
NC_000001.10:g.93303060C>T , CM000663.1:g.93303060C>T	GRCh37
NC_000001.9:g.93075648C>T	NCBI36
NG_011779.1:g.10467C>T
NG_033051.1:g.129020G>A
NG_011779.2:g.10518C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.575C>T (RPL5) MANE Select	ENSP00000359345.2:p.Ala192Val
ENST00000645119.1:c.324+2590C>T (RPL5)	ENSP00000493811.1:n.324+2590C>T
ENST00000645300.1:c.425C>T (RPL5)	ENSP00000495589.1:p.Ala142Val
ENST00000645908.1:n.309C>T (RPL5)
ENST00000370321.7:c.575C>T (RPL5)	ENSP00000359345.2:p.Ala192Val
ENST00000497519.1:n.894C>T (RPL5)
ENST00000615519.4:c.475-4469G>A (DIPK1A)	ENSP00000483279.1:n.475-4469G>A
NM_000969.3:c.575C>T (RPL5)	NP_000960.2:p.Ala192Val
NM_001252273.1:c.475-4469G>A (DIPK1A)	NP_001239202.1:n.475-4469G>A
NM_000969.5:c.575C>T (RPL5) MANE Select	NP_000960.2:p.Ala192Val
NR_146333.1:n.634C>T (RPL5)
NM_001252273.2:c.475-4469G>A (DIPK1A)	NP_001239202.1:n.475-4469G>A