Canonical Allele Identifier: CA341240781

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 572903
• ClinVar RCV Id: RCV000694413
• dbSNP Id: rs1558283853
• MyVariant Identifiers: chr1:g.93299012C>T (hg19) ; chr1:g.92833455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92833455C>T , CM000663.2:g.92833455C>T	GRCh38
NC_000001.10:g.93299012C>T , CM000663.1:g.93299012C>T	GRCh37
NC_000001.9:g.93071600C>T	NCBI36
NG_011779.1:g.6419C>T
NG_033051.1:g.133068G>A
NG_011779.2:g.6470C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.70C>T (RPL5) MANE Select	ENSP00000359345.2:p.Arg24Ter
ENST00000645119.1:c.70C>T (RPL5)	ENSP00000493811.1:p.Arg24Ter
ENST00000645300.1:c.-77-90C>T (RPL5)	ENSP00000495589.1:n.-77-90C>T
ENST00000646852.1:n.99C>T (RPL5)
ENST00000315741.5:c.-81C>T (RPL5)	ENSP00000359338.2:n.-81C>T
ENST00000370321.7:c.70C>T (RPL5)	ENSP00000359345.2:p.Arg24Ter
ENST00000461952.1:n.694C>T (RPL5)
ENST00000470843.5:c.70C>T (RPL5)	ENSP00000473675.1:p.Arg24Ter
ENST00000615519.4:c.475-421G>A (DIPK1A)	ENSP00000483279.1:n.475-421G>A
NM_000969.3:c.70C>T (RPL5)	NP_000960.2:p.Arg24Ter
NM_001252273.1:c.475-421G>A (DIPK1A)	NP_001239202.1:n.475-421G>A
NM_000969.5:c.70C>T (RPL5) MANE Select	NP_000960.2:p.Arg24Ter
NR_146333.1:n.199C>T (RPL5)
NM_001252273.2:c.475-421G>A (DIPK1A)	NP_001239202.1:n.475-421G>A