Canonical Allele Identifier: CA2312912

Gene: PLCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38008524G>T , CM000665.2:g.38008524G>T	GRCh38
NC_000003.11:g.38050015G>T , CM000665.1:g.38050015G>T	GRCh37
NC_000003.10:g.38025019G>T	NCBI36
NG_031922.1:g.26140C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334661.5:c.1836C>A MANE Select	ENSP00000335600.4:p.Asn612Lys
ENST00000334661.4:c.1836C>A	ENSP00000335600.4:p.Asn612Lys
ENST00000461445.5:n.2559C>A
ENST00000463876.5:c.1899C>A	ENSP00000430344.1:p.Asn633Lys
ENST00000484829.5:n.983C>A
ENST00000495395.1:n.241C>A
NM_001130964.1:c.1899C>A	NP_001124436.1:p.Asn633Lys
NM_006225.3:c.1836C>A	NP_006216.2:p.Asn612Lys
NR_024071.1:n.2330C>A
XM_017006622.1:c.1662C>A	XP_016862111.1:p.Asn554Lys
XR_001740173.2:n.1930-157C>A
NM_001130964.2:c.1899C>A	NP_001124436.1:p.Asn633Lys
NM_006225.4:c.1836C>A MANE Select	NP_006216.2:p.Asn612Lys
NR_024071.2:n.2063C>A