Canonical Allele Identifier: CA7728840

Gene: PLIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89667155G>A , CM000677.2:g.89667155G>A	GRCh38
NC_000015.9:g.90210386G>A , CM000677.1:g.90210386G>A	GRCh37
NC_000015.8:g.88011390G>A	NCBI36
NG_029172.1:g.17263C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002666.5:c.990C>T MANE Select	NP_002657.3:p.Gly330=
ENST00000300055.10:c.990C>T MANE Select	ENSP00000300055.5:p.Gly330=
NM_001145311.1:c.990C>T	NP_001138783.1:p.Gly330=
NM_001145311.2:c.990C>T	NP_001138783.1:p.Gly330=
NM_002666.4:c.990C>T	NP_002657.3:p.Gly330=
ENST00000300055.9:c.990C>T	ENSP00000300055.5:p.Gly330=
ENST00000430628.2:c.990C>T	ENSP00000402167.2:p.Gly330=
ENST00000560330.1:c.66C>T	ENSP00000453426.1:p.Gly22=
XM_005254934.3:c.990C>T	XP_005254991.1:p.Gly330=
XM_005254934.4:c.990C>T	XP_005254991.1:p.Gly330=