Canonical Allele Identifier: CA952409

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 298209
• ClinVar RCV Id: RCV000405612
• dbSNP Id: rs750383596
• ExAC: 1:93300348 C / T
• gnomAD v2: 1-93300348-C-T
• gnomAD v3: 1-92834791-C-T
• gnomAD v4: 1-92834791-C-T
• MyVariant Identifiers: chr1:g.93300348C>T (hg19) ; chr1:g.92834791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92834791C>T , CM000663.2:g.92834791C>T	GRCh38
NC_000001.10:g.93300348C>T , CM000663.1:g.93300348C>T	GRCh37
NC_000001.9:g.93072936C>T	NCBI36
NG_011779.1:g.7755C>T
NG_033051.1:g.131732G>A
NG_011779.2:g.7806C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.202C>T (RPL5) MANE Select	ENSP00000359345.2:p.Arg68Cys
ENST00000645119.1:c.202C>T (RPL5)	ENSP00000493811.1:p.Arg68Cys
ENST00000645300.1:c.52C>T (RPL5)	ENSP00000495589.1:p.Arg18Cys
ENST00000646852.1:n.231C>T (RPL5)
ENST00000315741.5:c.52C>T (RPL5)	ENSP00000359338.2:p.Arg18Cys
ENST00000370321.7:c.202C>T (RPL5)	ENSP00000359345.2:p.Arg68Cys
ENST00000461952.1:n.912C>T (RPL5)
ENST00000470843.5:c.*164C>T (RPL5)	ENSP00000473675.1:n.*164C>T
ENST00000615519.4:c.475-1757G>A (DIPK1A)	ENSP00000483279.1:n.475-1757G>A
NM_000969.3:c.202C>T (RPL5)	NP_000960.2:p.Arg68Cys
NM_001252273.1:c.475-1757G>A (DIPK1A)	NP_001239202.1:n.475-1757G>A
NM_000969.5:c.202C>T (RPL5) MANE Select	NP_000960.2:p.Arg68Cys
NR_146333.1:n.331C>T (RPL5)
NM_001252273.2:c.475-1757G>A (DIPK1A)	NP_001239202.1:n.475-1757G>A