Canonical Allele Identifier: CA2312957

Gene: PLCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38009073G>A , CM000665.2:g.38009073G>A	GRCh38
NC_000003.11:g.38050564G>A , CM000665.1:g.38050564G>A	GRCh37
NC_000003.10:g.38025568G>A	NCBI36
NG_031922.1:g.25591C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006225.4:c.1692C>T MANE Select	NP_006216.2:p.Pro564=
ENST00000334661.5:c.1692C>T MANE Select	ENSP00000335600.4:p.Pro564=
NM_001130964.1:c.1755C>T	NP_001124436.1:p.Pro585=
NM_001130964.2:c.1755C>T	NP_001124436.1:p.Pro585=
NM_006225.3:c.1692C>T	NP_006216.2:p.Pro564=
NR_024071.1:n.2186C>T
NR_024071.2:n.1919C>T
ENST00000334661.4:c.1692C>T	ENSP00000335600.4:p.Pro564=
ENST00000461445.5:n.2010C>T
ENST00000463876.5:c.1755C>T	ENSP00000430344.1:p.Pro585=
ENST00000484829.5:n.839C>T
ENST00000495367.1:n.477C>T
XM_017006622.1:c.1518C>T	XP_016862111.1:p.Pro506=
XR_001740173.2:n.1898C>T