Canonical Allele Identifier: CA7729145

Gene: PLIN1

Linked Data

• ClinVar Variation Id: 393441
• ClinVar RCV Id: RCV000445366 ; RCV000900456
• dbSNP Id: rs140081686
• ExAC: 15:90216584 C / A
• gnomAD v2: 15-90216584-C-A
• gnomAD v3: 15-89673353-C-A
• gnomAD v4: 15-89673353-C-A
• MyVariant Identifiers: chr15:g.90216584C>A (hg19) ; chr15:g.89673353C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89673353C>A , CM000677.2:g.89673353C>A	GRCh38
NC_000015.9:g.90216584C>A , CM000677.1:g.90216584C>A	GRCh37
NC_000015.8:g.88017588C>A	NCBI36
NG_029172.1:g.11065G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300055.10:c.107G>T MANE Select	ENSP00000300055.5:p.Cys36Phe
ENST00000300055.9:c.107G>T	ENSP00000300055.5:p.Cys36Phe
ENST00000430628.2:c.107G>T	ENSP00000402167.2:p.Cys36Phe
NM_001145311.1:c.107G>T	NP_001138783.1:p.Cys36Phe
NM_002666.4:c.107G>T	NP_002657.3:p.Cys36Phe
XM_005254934.3:c.107G>T	XP_005254991.1:p.Cys36Phe
XM_005254934.4:c.107G>T	XP_005254991.1:p.Cys36Phe
NM_002666.5:c.107G>T MANE Select	NP_002657.3:p.Cys36Phe
NM_001145311.2:c.107G>T	NP_001138783.1:p.Cys36Phe