Canonical Allele Identifier: CA26759880

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs977251152
• gnomAD v3: 1-92837860-C-T
• gnomAD v4: 1-92837860-C-T
• MyVariant Identifiers: chr1:g.93303417C>T (hg19) ; chr1:g.92837860C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837860C>T , CM000663.2:g.92837860C>T	GRCh38
NC_000001.10:g.93303417C>T , CM000663.1:g.93303417C>T	GRCh37
NC_000001.9:g.93076005C>T	NCBI36
NG_011779.1:g.10824C>T
NG_033051.1:g.128663G>A
NG_011779.2:g.10875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.705+227C>T (RPL5) MANE Select	ENSP00000359345.2:n.705+227C>T
ENST00000645119.1:c.325-2691C>T (RPL5)	ENSP00000493811.1:n.325-2691C>T
ENST00000645300.1:c.555+227C>T (RPL5)	ENSP00000495589.1:n.555+227C>T
ENST00000370321.7:c.705+227C>T (RPL5)	ENSP00000359345.2:n.705+227C>T
ENST00000497519.1:n.1024+227C>T (RPL5)
ENST00000615519.4:c.475-4826G>A (DIPK1A)	ENSP00000483279.1:n.475-4826G>A
NM_000969.3:c.705+227C>T (RPL5)	NP_000960.2:n.705+227C>T
NM_001252273.1:c.475-4826G>A (DIPK1A)	NP_001239202.1:n.475-4826G>A
NM_000969.5:c.705+227C>T (RPL5) MANE Select	NP_000960.2:n.705+227C>T
NR_146333.1:n.764+227C>T (RPL5)
NM_001252273.2:c.475-4826G>A (DIPK1A)	NP_001239202.1:n.475-4826G>A