Canonical Allele Identifier: CA418789356

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs1322065986
• gnomAD v2: 1-93303106-C-T
• gnomAD v3: 1-92837549-C-T
• gnomAD v4: 1-92837549-C-T
• MyVariant Identifiers: chr1:g.93303106C>T (hg19) ; chr1:g.92837549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837549C>T , CM000663.2:g.92837549C>T	GRCh38
NC_000001.10:g.93303106C>T , CM000663.1:g.93303106C>T	GRCh37
NC_000001.9:g.93075694C>T	NCBI36
NG_011779.1:g.10513C>T
NG_033051.1:g.128974G>A
NG_011779.2:g.10564C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.621C>T (RPL5) MANE Select	ENSP00000359345.2:p.Tyr207=
ENST00000645119.1:c.324+2636C>T (RPL5)	ENSP00000493811.1:n.324+2636C>T
ENST00000645300.1:c.471C>T (RPL5)	ENSP00000495589.1:p.Tyr157=
ENST00000645908.1:n.355C>T (RPL5)
ENST00000370321.7:c.621C>T (RPL5)	ENSP00000359345.2:p.Tyr207=
ENST00000497519.1:n.940C>T (RPL5)
ENST00000615519.4:c.475-4515G>A (DIPK1A)	ENSP00000483279.1:n.475-4515G>A
NM_000969.3:c.621C>T (RPL5)	NP_000960.2:p.Tyr207=
NM_001252273.1:c.475-4515G>A (DIPK1A)	NP_001239202.1:n.475-4515G>A
NM_000969.5:c.621C>T (RPL5) MANE Select	NP_000960.2:p.Tyr207=
NR_146333.1:n.680C>T (RPL5)
NM_001252273.2:c.475-4515G>A (DIPK1A)	NP_001239202.1:n.475-4515G>A