Canonical Allele Identifier: CA11516309
Community Standard Title: NM_002662.5(PLD1):c.540+256T>C
Gene: PLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171734609A>G , CM000665.2:g.171734609A>G GRCh38
NC_000003.11:g.171452399A>G , CM000665.1:g.171452399A>G GRCh37
NC_000003.10:g.172935093A>G NCBI36
NG_029851.1:g.80886T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002662.5:c.540+256T>C MANE Select NP_002653.1:n.540+256T>C
ENST00000351298.9:c.540+256T>C MANE Select ENSP00000342793.4:n.540+256T>C
NM_001130081.2:c.540+256T>C NP_001123553.1:n.540+256T>C
NM_001130081.3:c.540+256T>C NP_001123553.1:n.540+256T>C
NM_002662.4:c.540+256T>C NP_002653.1:n.540+256T>C
ENST00000351298.8:c.540+256T>C ENSP00000342793.4:n.540+256T>C
ENST00000356327.9:c.540+256T>C ENSP00000348681.5:n.540+256T>C
ENST00000440204.5:c.*238+256T>C ENSP00000391164.1:n.*238+256T>C
ENST00000475273.6:n.421+256T>C
ENST00000498278.5:n.610+256T>C
XM_005247533.1:c.540+256T>C XP_005247590.1:n.540+256T>C
XM_005247533.2:c.540+256T>C XP_005247590.1:n.540+256T>C
XM_005247534.1:c.540+256T>C XP_005247591.1:n.540+256T>C
XM_005247534.2:c.540+256T>C XP_005247591.1:n.540+256T>C
XM_011512897.1:c.540+256T>C XP_011511199.1:n.540+256T>C
XM_011512898.1:c.540+256T>C XP_011511200.1:n.540+256T>C
XM_017006623.2:c.540+256T>C XP_016862112.1:n.540+256T>C
XR_001740174.1:n.736+256T>C
XR_001740175.1:n.736+256T>C
XR_924146.1:n.736+256T>C