Canonical Allele Identifier: CA26758693

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs1049301805
• gnomAD v4: 1-92836129-A-C
• MyVariant Identifiers: chr1:g.93301686A>C (hg19) ; chr1:g.92836129A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92836129A>C , CM000663.2:g.92836129A>C	GRCh38
NC_000001.10:g.93301686A>C , CM000663.1:g.93301686A>C	GRCh37
NC_000001.9:g.93074274A>C	NCBI36
NG_011779.1:g.9093A>C
NG_033051.1:g.130394T>G
NG_011779.2:g.9144A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.325-61A>C (RPL5) MANE Select	ENSP00000359345.2:n.325-61A>C
ENST00000645119.1:c.324+1216A>C (RPL5)	ENSP00000493811.1:n.324+1216A>C
ENST00000645300.1:c.175-61A>C (RPL5)	ENSP00000495589.1:n.175-61A>C
ENST00000645908.1:n.59-61A>C (RPL5)
ENST00000315741.5:c.175-61A>C (RPL5)	ENSP00000359338.2:n.175-61A>C
ENST00000370321.7:c.325-61A>C (RPL5)	ENSP00000359345.2:n.325-61A>C
ENST00000461952.1:n.1035-61A>C (RPL5)
ENST00000470843.5:c.*287-61A>C (RPL5)	ENSP00000473675.1:n.*287-61A>C
ENST00000615519.4:c.475-3095T>G (DIPK1A)	ENSP00000483279.1:n.475-3095T>G
NM_000969.3:c.325-61A>C (RPL5)	NP_000960.2:n.325-61A>C
NM_001252273.1:c.475-3095T>G (DIPK1A)	NP_001239202.1:n.475-3095T>G
NM_000969.5:c.325-61A>C (RPL5) MANE Select	NP_000960.2:n.325-61A>C
NR_146333.1:n.421-98A>C (RPL5)
NM_001252273.2:c.475-3095T>G (DIPK1A)	NP_001239202.1:n.475-3095T>G