Canonical Allele Identifier: CA403446705

Gene: PLIN4

Linked Data

• ClinVar Variation Id: 2617395
• ClinVar RCV Id: RCV004353074
• gnomAD v4: 19-4504662-C-T
• MyVariant Identifiers: chr19:g.4504674C>T (hg19) ; chr19:g.4504662C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4504662C>T , CM000681.2:g.4504662C>T	GRCh38
NC_000019.9:g.4504674C>T , CM000681.1:g.4504674C>T	GRCh37
NC_000019.8:g.4455674C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301286.5:c.3913G>A MANE Select	ENSP00000301286.4:p.Ala1305Thr
ENST00000301286.4:c.3871G>A	ENSP00000301286.3:p.Ala1291Thr
ENST00000633942.1:c.3916G>A	ENSP00000488481.1:p.Ala1306Thr
NM_001080400.1:c.3871G>A	NP_001073869.1:p.Ala1291Thr
XM_006722866.1:c.3916G>A	XP_006722929.1:p.Ala1306Thr
XM_006722868.2:c.3913G>A	XP_006722931.1:p.Ala1305Thr
XM_011528233.1:c.4096G>A	XP_011526535.1:p.Ala1366Thr
XM_011528234.1:c.4096G>A	XP_011526536.1:p.Ala1366Thr
XM_011528235.1:c.4096G>A	XP_011526537.1:p.Ala1366Thr
XM_011528236.1:c.3799G>A	XP_011526538.1:p.Ala1267Thr
XM_011528237.1:c.3700G>A	XP_011526539.1:p.Ala1234Thr
XM_006722866.2:c.3916G>A	XP_006722929.1:p.Ala1306Thr
XM_006722868.4:c.3913G>A	XP_006722931.1:p.Ala1305Thr
XM_011528233.2:c.4096G>A	XP_011526535.1:p.Ala1366Thr
XM_017027192.1:c.4099G>A	XP_016882681.1:p.Ala1367Thr
XM_017027193.1:c.4099G>A	XP_016882682.1:p.Ala1367Thr
XM_017027194.1:c.4099G>A	XP_016882683.1:p.Ala1367Thr
NM_001367868.1:c.3913G>A	NP_001354797.1:p.Ala1305Thr
NM_001367868.2:c.3913G>A MANE Select	NP_001354797.1:p.Ala1305Thr
NM_001393888.1:c.3916G>A	NP_001380817.1:p.Ala1306Thr
NM_001393889.1:c.3916G>A	NP_001380818.1:p.Ala1306Thr
NM_001393890.1:c.3913G>A	NP_001380819.1:p.Ala1305Thr
NM_001393891.1:c.3913G>A	NP_001380820.1:p.Ala1305Thr