Canonical Allele Identifier: CA2704455

Gene: PLD1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171677678A>G , CM000665.2:g.171677678A>G	GRCh38
NC_000003.11:g.171395468A>G , CM000665.1:g.171395468A>G	GRCh37
NC_000003.10:g.172878162A>G	NCBI36
NG_029851.1:g.137817T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002662.5:c.1884T>C MANE Select	NP_002653.1:p.Arg628=
ENST00000351298.9:c.1884T>C MANE Select	ENSP00000342793.4:p.Arg628=
NM_001130081.2:c.1770T>C	NP_001123553.1:p.Arg590=
NM_001130081.3:c.1770T>C	NP_001123553.1:p.Arg590=
NM_002662.4:c.1884T>C	NP_002653.1:p.Arg628=
ENST00000351298.8:c.1884T>C	ENSP00000342793.4:p.Arg628=
ENST00000356327.9:c.1770T>C	ENSP00000348681.5:p.Arg590=
ENST00000471075.1:n.176T>C
XM_005247533.1:c.1884T>C	XP_005247590.1:p.Arg628=
XM_005247533.2:c.1884T>C	XP_005247590.1:p.Arg628=
XM_005247534.1:c.1770T>C	XP_005247591.1:p.Arg590=
XM_005247534.2:c.1770T>C	XP_005247591.1:p.Arg590=
XM_011512897.1:c.1884T>C	XP_011511199.1:p.Arg628=
XM_011512898.1:c.1884T>C	XP_011511200.1:p.Arg628=
XM_011512899.1:c.633T>C	XP_011511201.1:p.Arg211=
XM_011512899.2:c.633T>C	XP_011511201.1:p.Arg211=
XM_017006623.2:c.1770T>C	XP_016862112.1:p.Arg590=
XM_017006624.1:c.633T>C	XP_016862113.1:p.Arg211=
XM_024453598.1:c.666T>C	XP_024309366.1:p.Arg222=
XR_001740174.1:n.1966T>C
XR_001740175.1:n.2080T>C
XR_924146.1:n.2080T>C