Canonical Allele Identifier: CA3159804

Gene: PDLIM3

Linked Data

• ClinVar Variation Id: 454476
• ClinVar RCV Id: RCV000545931 ; RCV004023696
• dbSNP Id: rs372840074
• ExAC: 4:186435447 A / G
• gnomAD v2: 4-186435447-A-G
• gnomAD v3: 4-185514293-A-G
• gnomAD v4: 4-185514293-A-G
• MyVariant Identifiers: chr4:g.186435447A>G (hg19) ; chr4:g.185514293A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185514293A>G , CM000666.2:g.185514293A>G	GRCh38
NC_000004.11:g.186435447A>G , CM000666.1:g.186435447A>G	GRCh37
NC_000004.10:g.186672441A>G	NCBI36
NG_032576.2:g.26266T>C
NG_032576.3:g.26266T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284767.12:c.375T>C MANE Select	ENSP00000284767.8:p.Pro125=
ENST00000284770.10:c.138T>C	ENSP00000284770.5:p.Pro46=
ENST00000284771.7:c.518+410T>C	ENSP00000284771.6:n.518+410T>C
ENST00000620787.5:c.375T>C	ENSP00000481771.2:p.Pro125=
ENST00000643009.1:c.363T>C	ENSP00000495411.1:p.Pro121=
ENST00000284767.9:c.375T>C	ENSP00000284767.6:p.Pro125=
ENST00000284770.9:c.375T>C	ENSP00000284770.4:p.Pro125=
ENST00000284771.6:c.518+410T>C	ENSP00000284771.6:n.518+410T>C
ENST00000504011.5:n.620T>C
ENST00000504355.5:n.363T>C
ENST00000505886.5:c.*237+410T>C	ENSP00000425138.1:n.*237+410T>C
ENST00000512293.1:c.*94T>C	ENSP00000421972.1:n.*94T>C
ENST00000514142.5:n.3425T>C
ENST00000620787.4:c.138T>C	ENSP00000481771.1:p.Pro46=
ENST00000629667.2:c.*94T>C	ENSP00000486107.1:n.*94T>C
NM_001114107.4:c.518+410T>C	NP_001107579.1:n.518+410T>C
NM_001257962.1:c.375T>C	NP_001244891.1:p.Pro125=
NM_001257963.1:c.138T>C	NP_001244892.1:p.Pro46=
NM_014476.5:c.375T>C	NP_055291.2:p.Pro125=
NR_047562.1:n.455-7641T>C
XM_011531874.1:c.563T>C	XP_011530176.1:p.Leu188Pro
XR_938723.1:n.736T>C
XR_938724.1:n.736T>C
XR_001741206.2:n.636T>C
XR_938723.3:n.636T>C
XR_938724.3:n.636T>C
NM_001114107.5:c.518+410T>C	NP_001107579.1:n.518+410T>C
NM_014476.6:c.375T>C MANE Select	NP_055291.2:p.Pro125=
NM_001257962.2:c.375T>C	NP_001244891.1:p.Pro125=
NM_001257963.2:c.138T>C	NP_001244892.1:p.Pro46=
NR_047562.2:n.404-7641T>C