Canonical Allele Identifier: CA341242811

Gene: RPL5 DIPK1A

Linked Data

• gnomAD v4: 1-92837481-T-A
• MyVariant Identifiers: chr1:g.93303038T>A (hg19) ; chr1:g.92837481T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837481T>A , CM000663.2:g.92837481T>A	GRCh38
NC_000001.10:g.93303038T>A , CM000663.1:g.93303038T>A	GRCh37
NC_000001.9:g.93075626T>A	NCBI36
NG_011779.1:g.10445T>A
NG_033051.1:g.129042A>T
NG_011779.2:g.10496T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.553T>A (RPL5) MANE Select	ENSP00000359345.2:p.Ser185Thr
ENST00000645119.1:c.324+2568T>A (RPL5)	ENSP00000493811.1:n.324+2568T>A
ENST00000645300.1:c.403T>A (RPL5)	ENSP00000495589.1:p.Ser135Thr
ENST00000645908.1:n.287T>A (RPL5)
ENST00000370321.7:c.553T>A (RPL5)	ENSP00000359345.2:p.Ser185Thr
ENST00000497519.1:n.872T>A (RPL5)
ENST00000615519.4:c.475-4447A>T (DIPK1A)	ENSP00000483279.1:n.475-4447A>T
NM_000969.3:c.553T>A (RPL5)	NP_000960.2:p.Ser185Thr
NM_001252273.1:c.475-4447A>T (DIPK1A)	NP_001239202.1:n.475-4447A>T
NM_000969.5:c.553T>A (RPL5) MANE Select	NP_000960.2:p.Ser185Thr
NR_146333.1:n.612T>A (RPL5)
NM_001252273.2:c.475-4447A>T (DIPK1A)	NP_001239202.1:n.475-4447A>T