Canonical Allele Identifier: CA952341

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs376462650
• ExAC: 1:93298916 A / C
• gnomAD v2: 1-93298916-A-C
• gnomAD v4: 1-92833359-A-C
• MyVariant Identifiers: chr1:g.93298916A>C (hg19) ; chr1:g.92833359A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92833359A>C , CM000663.2:g.92833359A>C	GRCh38
NC_000001.10:g.93298916A>C , CM000663.1:g.93298916A>C	GRCh37
NC_000001.9:g.93071504A>C	NCBI36
NG_011779.1:g.6323A>C
NG_033051.1:g.133164T>G
NG_011779.2:g.6374A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.4-30A>C (RPL5) MANE Select	ENSP00000359345.2:n.4-30A>C
ENST00000645119.1:c.4-30A>C (RPL5)	ENSP00000493811.1:n.4-30A>C
ENST00000645300.1:c.-77-186A>C (RPL5)	ENSP00000495589.1:n.-77-186A>C
ENST00000646852.1:n.33-30A>C (RPL5)
ENST00000315741.5:c.-147-30A>C (RPL5)	ENSP00000359338.2:n.-147-30A>C
ENST00000370321.7:c.4-30A>C (RPL5)	ENSP00000359345.2:n.4-30A>C
ENST00000461952.1:n.598A>C (RPL5)
ENST00000470843.5:c.4-30A>C (RPL5)	ENSP00000473675.1:n.4-30A>C
ENST00000615519.4:c.475-325T>G (DIPK1A)	ENSP00000483279.1:n.475-325T>G
NM_000969.3:c.4-30A>C (RPL5)	NP_000960.2:n.4-30A>C
NM_001252273.1:c.475-325T>G (DIPK1A)	NP_001239202.1:n.475-325T>G
NM_000969.5:c.4-30A>C (RPL5) MANE Select	NP_000960.2:n.4-30A>C
NR_146333.1:n.133-30A>C (RPL5)
NM_001252273.2:c.475-325T>G (DIPK1A)	NP_001239202.1:n.475-325T>G