Canonical Allele Identifier: CA358924990

Gene: PDLIM3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185514314C>G , CM000666.2:g.185514314C>G	GRCh38
NC_000004.11:g.186435468C>G , CM000666.1:g.186435468C>G	GRCh37
NC_000004.10:g.186672462C>G	NCBI36
NG_032576.2:g.26245G>C
NG_032576.3:g.26245G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014476.6:c.354G>C MANE Select	NP_055291.2:p.Lys118Asn
ENST00000284767.12:c.354G>C MANE Select	ENSP00000284767.8:p.Lys118Asn
NM_001114107.4:c.518+389G>C	NP_001107579.1:n.518+389G>C
NM_001114107.5:c.518+389G>C	NP_001107579.1:n.518+389G>C
NM_001257962.1:c.354G>C	NP_001244891.1:p.Lys118Asn
NM_001257962.2:c.354G>C	NP_001244891.1:p.Lys118Asn
NM_001257963.1:c.117G>C	NP_001244892.1:p.Lys39Asn
NM_001257963.2:c.117G>C	NP_001244892.1:p.Lys39Asn
NM_014476.5:c.354G>C	NP_055291.2:p.Lys118Asn
NR_047562.1:n.455-7662G>C
NR_047562.2:n.404-7662G>C
ENST00000284767.9:c.354G>C	ENSP00000284767.6:p.Lys118Asn
ENST00000284770.10:c.117G>C	ENSP00000284770.5:p.Lys39Asn
ENST00000284770.9:c.354G>C	ENSP00000284770.4:p.Lys118Asn
ENST00000284771.6:c.518+389G>C	ENSP00000284771.6:n.518+389G>C
ENST00000284771.7:c.518+389G>C	ENSP00000284771.6:n.518+389G>C
ENST00000504011.5:n.599G>C
ENST00000504355.5:n.342G>C
ENST00000505886.5:c.*237+389G>C	ENSP00000425138.1:n.*237+389G>C
ENST00000512293.1:c.*73G>C	ENSP00000421972.1:n.*73G>C
ENST00000514142.5:n.3404G>C
ENST00000620787.4:c.117G>C	ENSP00000481771.1:p.Lys39Asn
ENST00000620787.5:c.354G>C	ENSP00000481771.2:p.Lys118Asn
ENST00000629667.2:c.*73G>C	ENSP00000486107.1:n.*73G>C
ENST00000643009.1:c.342G>C	ENSP00000495411.1:p.Lys114Asn
XM_011531874.1:c.542G>C	XP_011530176.1:p.Ser181Thr
XR_001741206.2:n.615G>C
XR_938723.1:n.715G>C
XR_938723.3:n.615G>C
XR_938724.1:n.715G>C
XR_938724.3:n.615G>C