Canonical Allele Identifier: CA26756946

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 6184
• ClinVar RCV Id: RCV000006561
• dbSNP Id: rs142156224
• MyVariant Identifiers: chr1:g.93299017T>G (hg19) ; chr1:g.92833460T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92833460T>G , CM000663.2:g.92833460T>G	GRCh38
NC_000001.10:g.93299017T>G , CM000663.1:g.93299017T>G	GRCh37
NC_000001.9:g.93071605T>G	NCBI36
NG_011779.1:g.6424T>G
NG_033051.1:g.133063A>C
NG_011779.2:g.6475T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.73+2T>G (RPL5) MANE Select	ENSP00000359345.2:n.73+2T>G
ENST00000645119.1:c.73+2T>G (RPL5)	ENSP00000493811.1:n.73+2T>G
ENST00000645300.1:c.-77-85T>G (RPL5)	ENSP00000495589.1:n.-77-85T>G
ENST00000646852.1:n.102+2T>G (RPL5)
ENST00000315741.5:c.-78+2T>G (RPL5)	ENSP00000359338.2:n.-78+2T>G
ENST00000370321.7:c.73+2T>G (RPL5)	ENSP00000359345.2:n.73+2T>G
ENST00000461952.1:n.699T>G (RPL5)
ENST00000470843.5:c.73+2T>G (RPL5)	ENSP00000473675.1:n.73+2T>G
ENST00000615519.4:c.475-426A>C (DIPK1A)	ENSP00000483279.1:n.475-426A>C
NM_000969.3:c.73+2T>G (RPL5)	NP_000960.2:n.73+2T>G
NM_001252273.1:c.475-426A>C (DIPK1A)	NP_001239202.1:n.475-426A>C
NM_000969.5:c.73+2T>G (RPL5) MANE Select	NP_000960.2:n.73+2T>G
NR_146333.1:n.202+2T>G (RPL5)
NM_001252273.2:c.475-426A>C (DIPK1A)	NP_001239202.1:n.475-426A>C