Canonical Allele Identifier: CA2194721745

Gene: PLIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89667026G= , CM000677.2:g.89667026G=	GRCh38
NC_000015.9:g.90210257G= , CM000677.1:g.90210257G=	GRCh37
NC_000015.8:g.88011261G=	NCBI36
NG_029172.1:g.17392C=

Transcript Alleles

HGVS	Amino-acid Change
NM_002666.5:c.1119C= MANE Select	NP_002657.3:p.Val373=
ENST00000300055.10:c.1119C= MANE Select	ENSP00000300055.5:p.Val373=
NM_001145311.1:c.1119C=	NP_001138783.1:p.Val373=
NM_001145311.2:c.1119C=	NP_001138783.1:p.Val373=
NM_002666.4:c.1119C=	NP_002657.3:p.Val373=
ENST00000300055.9:c.1119C=	ENSP00000300055.5:p.Val373=
ENST00000430628.2:c.1119C=	ENSP00000402167.2:p.Val373=
ENST00000560330.1:c.123+72C=	ENSP00000453426.1:n.123+72C=
XM_005254934.3:c.1119C=	XP_005254991.1:p.Val373=
XM_005254934.4:c.1119C=	XP_005254991.1:p.Val373=