Canonical Allele Identifier: CA26759598

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 2420967
• ClinVar RCV Id: RCV003112627
• dbSNP Id: rs965247191
• gnomAD v3: 1-92837495-A-C
• gnomAD v4: 1-92837495-A-C
• MyVariant Identifiers: chr1:g.93303052A>C (hg19) ; chr1:g.92837495A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837495A>C , CM000663.2:g.92837495A>C	GRCh38
NC_000001.10:g.93303052A>C , CM000663.1:g.93303052A>C	GRCh37
NC_000001.9:g.93075640A>C	NCBI36
NG_011779.1:g.10459A>C
NG_033051.1:g.129028T>G
NG_011779.2:g.10510A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.567A>C (RPL5) MANE Select	ENSP00000359345.2:p.Glu189Asp
ENST00000645119.1:c.324+2582A>C (RPL5)	ENSP00000493811.1:n.324+2582A>C
ENST00000645300.1:c.417A>C (RPL5)	ENSP00000495589.1:p.Glu139Asp
ENST00000645908.1:n.301A>C (RPL5)
ENST00000370321.7:c.567A>C (RPL5)	ENSP00000359345.2:p.Glu189Asp
ENST00000497519.1:n.886A>C (RPL5)
ENST00000615519.4:c.475-4461T>G (DIPK1A)	ENSP00000483279.1:n.475-4461T>G
NM_000969.3:c.567A>C (RPL5)	NP_000960.2:p.Glu189Asp
NM_001252273.1:c.475-4461T>G (DIPK1A)	NP_001239202.1:n.475-4461T>G
NM_000969.5:c.567A>C (RPL5) MANE Select	NP_000960.2:p.Glu189Asp
NR_146333.1:n.626A>C (RPL5)
NM_001252273.2:c.475-4461T>G (DIPK1A)	NP_001239202.1:n.475-4461T>G