Canonical Allele Identifier: CA355493435
Gene: PLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171674579G>A , CM000665.2:g.171674579G>A GRCh38
NC_000003.11:g.171392369G>A , CM000665.1:g.171392369G>A GRCh37
NC_000003.10:g.172875063G>A NCBI36
NG_029851.1:g.140916C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351298.9:c.2150C>T MANE Select ENSP00000342793.4:p.Pro717Leu
ENST00000351298.8:c.2150C>T ENSP00000342793.4:p.Pro717Leu
ENST00000356327.9:c.2036C>T ENSP00000348681.5:p.Pro679Leu
ENST00000471075.1:n.442C>T
NM_001130081.2:c.2036C>T NP_001123553.1:p.Pro679Leu
NM_002662.4:c.2150C>T NP_002653.1:p.Pro717Leu
XM_005247533.1:c.2150C>T XP_005247590.1:p.Pro717Leu
XM_005247534.1:c.2036C>T XP_005247591.1:p.Pro679Leu
XM_011512897.1:c.2150C>T XP_011511199.1:p.Pro717Leu
XM_011512898.1:c.2150C>T XP_011511200.1:p.Pro717Leu
XM_011512899.1:c.899C>T XP_011511201.1:p.Pro300Leu
XR_924146.1:n.2346C>T
XM_005247533.2:c.2150C>T XP_005247590.1:p.Pro717Leu
XM_005247534.2:c.2036C>T XP_005247591.1:p.Pro679Leu
XM_011512899.2:c.899C>T XP_011511201.1:p.Pro300Leu
XM_017006623.2:c.2036C>T XP_016862112.1:p.Pro679Leu
XM_017006624.1:c.899C>T XP_016862113.1:p.Pro300Leu
XM_024453598.1:c.932C>T XP_024309366.1:p.Pro311Leu
XR_001740174.1:n.2232C>T
XR_001740175.1:n.2346C>T
NM_002662.5:c.2150C>T MANE Select NP_002653.1:p.Pro717Leu
NM_001130081.3:c.2036C>T NP_001123553.1:p.Pro679Leu