Canonical Allele Identifier: CA619527070

Gene: PLIN1

Linked Data

• dbSNP Id: rs1267740692
• gnomAD v2: 15-90208044-T-C
• gnomAD v3: 15-89664813-T-C
• gnomAD v4: 15-89664813-T-C
• MyVariant Identifiers: chr15:g.90208044T>C (hg19) ; chr15:g.89664813T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89664813T>C , CM000677.2:g.89664813T>C	GRCh38
NC_000015.9:g.90208044T>C , CM000677.1:g.90208044T>C	GRCh37
NC_000015.8:g.88009048T>C	NCBI36
NG_029172.1:g.19605A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300055.10:c.*770A>G MANE Select	ENSP00000300055.5:n.*770A>G
ENST00000300055.9:c.*770A>G	ENSP00000300055.5:n.*770A>G
ENST00000430628.2:c.*770A>G	ENSP00000402167.2:n.*770A>G
ENST00000560330.1:c.252A>G	ENSP00000453426.1:n.252A>G
NM_001145311.1:c.*770A>G	NP_001138783.1:n.*770A>G
NM_002666.4:c.*770A>G	NP_002657.3:n.*770A>G
XM_005254934.3:c.*770A>G	XP_005254991.1:n.*770A>G
XM_005254934.4:c.*770A>G	XP_005254991.1:n.*770A>G
NM_002666.5:c.*770A>G MANE Select	NP_002657.3:n.*770A>G
NM_001145311.2:c.*770A>G	NP_001138783.1:n.*770A>G