Canonical Allele Identifier: CA274590526

Gene: PLIN1

Linked Data

• dbSNP Id: rs989981034
• gnomAD v3: 15-89664997-G-C
• gnomAD v4: 15-89664997-G-C
• MyVariant Identifiers: chr15:g.90208228G>C (hg19) ; chr15:g.89664997G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89664997G>C , CM000677.2:g.89664997G>C	GRCh38
NC_000015.9:g.90208228G>C , CM000677.1:g.90208228G>C	GRCh37
NC_000015.8:g.88009232G>C	NCBI36
NG_029172.1:g.19421C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300055.10:c.*586C>G MANE Select	ENSP00000300055.5:n.*586C>G
ENST00000300055.9:c.*586C>G	ENSP00000300055.5:n.*586C>G
ENST00000430628.2:c.*586C>G	ENSP00000402167.2:n.*586C>G
ENST00000560330.1:c.124-56C>G	ENSP00000453426.1:n.124-56C>G
NM_001145311.1:c.*586C>G	NP_001138783.1:n.*586C>G
NM_002666.4:c.*586C>G	NP_002657.3:n.*586C>G
XM_005254934.3:c.*586C>G	XP_005254991.1:n.*586C>G
XM_005254934.4:c.*586C>G	XP_005254991.1:n.*586C>G
NM_002666.5:c.*586C>G MANE Select	NP_002657.3:n.*586C>G
NM_001145311.2:c.*586C>G	NP_001138783.1:n.*586C>G