Canonical Allele Identifier: CA14089415

Gene: PLIN1 PEX11A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89677777T>G , CM000677.2:g.89677777T>G	GRCh38
NC_000015.9:g.90221008T>G , CM000677.1:g.90221008T>G	GRCh37
NC_000015.8:g.88022012T>G	NCBI36
NG_029172.1:g.6641A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002666.5:c.-14-274A>C (PLIN1) MANE Select	NP_002657.3:n.-14-274A>C
ENST00000300055.10:c.-14-274A>C (PLIN1) MANE Select	ENSP00000300055.5:n.-14-274A>C
NM_001145311.1:c.-14-274A>C (PLIN1)	NP_001138783.1:n.-14-274A>C
NM_001145311.2:c.-14-274A>C (PLIN1)	NP_001138783.1:n.-14-274A>C
NM_002666.4:c.-14-274A>C (PLIN1)	NP_002657.3:n.-14-274A>C
ENST00000300055.9:c.-14-274A>C (PLIN1)	ENSP00000300055.5:n.-14-274A>C
ENST00000430628.2:c.-14-274A>C (PLIN1)	ENSP00000402167.2:n.-14-274A>C
ENST00000531697.1:n.97-274A>C (PLIN1)
ENST00000557982.1:n.633A>C (PEX11A)