Canonical Allele Identifier: CA355492925
Gene: PLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171674504A>C , CM000665.2:g.171674504A>C GRCh38
NC_000003.11:g.171392294A>C , CM000665.1:g.171392294A>C GRCh37
NC_000003.10:g.172874988A>C NCBI36
NG_029851.1:g.140991T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351298.9:c.2225T>G MANE Select ENSP00000342793.4:p.Val742Gly
ENST00000351298.8:c.2225T>G ENSP00000342793.4:p.Val742Gly
ENST00000356327.9:c.2111T>G ENSP00000348681.5:p.Val704Gly
ENST00000446289.1:c.13T>G
ENST00000471075.1:n.517T>G
NM_001130081.2:c.2111T>G NP_001123553.1:p.Val704Gly
NM_002662.4:c.2225T>G NP_002653.1:p.Val742Gly
XM_005247533.1:c.2225T>G XP_005247590.1:p.Val742Gly
XM_005247534.1:c.2111T>G XP_005247591.1:p.Val704Gly
XM_011512897.1:c.2225T>G XP_011511199.1:p.Val742Gly
XM_011512898.1:c.2225T>G XP_011511200.1:p.Val742Gly
XM_011512899.1:c.974T>G XP_011511201.1:p.Val325Gly
XR_924146.1:n.2421T>G
XM_005247533.2:c.2225T>G XP_005247590.1:p.Val742Gly
XM_005247534.2:c.2111T>G XP_005247591.1:p.Val704Gly
XM_011512899.2:c.974T>G XP_011511201.1:p.Val325Gly
XM_017006623.2:c.2111T>G XP_016862112.1:p.Val704Gly
XM_017006624.1:c.974T>G XP_016862113.1:p.Val325Gly
XM_024453598.1:c.1007T>G XP_024309366.1:p.Val336Gly
XR_001740174.1:n.2307T>G
XR_001740175.1:n.2421T>G
NM_002662.5:c.2225T>G MANE Select NP_002653.1:p.Val742Gly
NM_001130081.3:c.2111T>G NP_001123553.1:p.Val704Gly