Canonical Allele Identifier: CA341240798

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 523383
• ClinVar RCV Id: RCV000626716
• dbSNP Id: rs1553284997
• MyVariant Identifiers: chr1:g.93299101G>C (hg19) ; chr1:g.92833544G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92833544G>C , CM000663.2:g.92833544G>C	GRCh38
NC_000001.10:g.93299101G>C , CM000663.1:g.93299101G>C	GRCh37
NC_000001.9:g.93071689G>C	NCBI36
NG_011779.1:g.6508G>C
NG_033051.1:g.132979C>G
NG_011779.2:g.6559G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.74-1G>C (RPL5) MANE Select	ENSP00000359345.2:n.74-1G>C
ENST00000645119.1:c.74-1G>C (RPL5)	ENSP00000493811.1:n.74-1G>C
ENST00000645300.1:c.-77-1G>C (RPL5)	ENSP00000495589.1:n.-77-1G>C
ENST00000646852.1:n.103-1G>C (RPL5)
ENST00000315741.5:c.-77-1G>C (RPL5)	ENSP00000359338.2:n.-77-1G>C
ENST00000370321.7:c.74-1G>C (RPL5)	ENSP00000359345.2:n.74-1G>C
ENST00000461952.1:n.783G>C (RPL5)
ENST00000470843.5:c.74-1G>C (RPL5)	ENSP00000473675.1:n.74-1G>C
ENST00000615519.4:c.475-510C>G (DIPK1A)	ENSP00000483279.1:n.475-510C>G
NM_000969.3:c.74-1G>C (RPL5)	NP_000960.2:n.74-1G>C
NM_001252273.1:c.475-510C>G (DIPK1A)	NP_001239202.1:n.475-510C>G
NM_000969.5:c.74-1G>C (RPL5) MANE Select	NP_000960.2:n.74-1G>C
NR_146333.1:n.203-1G>C (RPL5)
NM_001252273.2:c.475-510C>G (DIPK1A)	NP_001239202.1:n.475-510C>G