Canonical Allele Identifier: CA529958870

Gene: PLD5

Linked Data

• dbSNP Id: rs10803016
• gnomAD v2: 1-242274908-G-C
• gnomAD v3: 1-242111606-G-C
• gnomAD v4: 1-242111606-G-C
• MyVariant Identifiers: chr1:g.242274908G>C (hg19) ; chr1:g.242111606G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.242111606G>C , CM000663.2:g.242111606G>C	GRCh38
NC_000001.10:g.242274908G>C , CM000663.1:g.242274908G>C	GRCh37
NC_000001.9:g.240341531G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000536534.7:c.1070+2284C>G MANE Select	ENSP00000440896.1:n.1070+2284C>G
ENST00000314833.10:c.*578+2284C>G	ENSP00000314748.6:n.*578+2284C>G
ENST00000366545.5:c.*747+2284C>G	ENSP00000355503.4:n.*747+2284C>G
ENST00000427495.5:c.884+2284C>G	ENSP00000401285.1:n.884+2284C>G
ENST00000442594.6:c.1070+2284C>G	ENSP00000414188.3:n.1070+2284C>G
ENST00000536534.6:c.1070+2284C>G	ENSP00000440896.1:n.1070+2284C>G
NM_001195811.1:c.884+2284C>G	NP_001182740.1:n.884+2284C>G
NM_001195812.1:c.446+2284C>G	NP_001182741.1:n.446+2284C>G
NM_152666.2:c.1070+2284C>G	NP_689879.2:n.1070+2284C>G
XM_006711752.1:c.1070+2284C>G	XP_006711815.1:n.1070+2284C>G
XM_011544115.1:c.797+2284C>G	XP_011542417.1:n.797+2284C>G
XM_011544116.1:c.797+2284C>G	XP_011542418.1:n.797+2284C>G
XM_011544117.1:c.797+2284C>G	XP_011542419.1:n.797+2284C>G
XM_011544118.1:c.794+2284C>G	XP_011542420.1:n.794+2284C>G
XM_011544119.1:c.566+2284C>G	XP_011542421.1:n.566+2284C>G
XM_011544120.1:c.446+2284C>G	XP_011542422.1:n.446+2284C>G
XM_011544121.1:c.446+2284C>G	XP_011542423.1:n.446+2284C>G
XM_011544122.1:c.446+2284C>G	XP_011542424.1:n.446+2284C>G
NM_001320272.1:c.794+2284C>G	NP_001307201.1:n.794+2284C>G
XM_006711752.3:c.1070+2284C>G	XP_006711815.1:n.1070+2284C>G
XM_011544115.2:c.797+2284C>G	XP_011542417.1:n.797+2284C>G
XM_011544116.2:c.797+2284C>G	XP_011542418.1:n.797+2284C>G
XM_011544119.2:c.665+2284C>G	XP_011542421.2:n.665+2284C>G
XM_011544120.2:c.446+2284C>G	XP_011542422.1:n.446+2284C>G
XM_011544121.2:c.446+2284C>G	XP_011542423.1:n.446+2284C>G
XM_011544122.3:c.446+2284C>G	XP_011542424.1:n.446+2284C>G
XM_017000567.2:c.794+2284C>G	XP_016856056.1:n.794+2284C>G
XM_017000568.2:c.794+2284C>G	XP_016856057.1:n.794+2284C>G
XM_017000569.1:c.446+2284C>G	XP_016856058.1:n.446+2284C>G
XM_017000570.2:c.446+2284C>G	XP_016856059.1:n.446+2284C>G
XM_024453867.1:c.941+2284C>G	XP_024309635.1:n.941+2284C>G
NM_001195812.2:c.446+2284C>G	NP_001182741.1:n.446+2284C>G
NM_001320272.2:c.794+2284C>G	NP_001307201.1:n.794+2284C>G
NM_001372062.1:c.1070+2284C>G MANE Select	NP_001358991.1:n.1070+2284C>G
NM_001195811.2:c.884+2284C>G	NP_001182740.1:n.884+2284C>G