Canonical Allele Identifier: CA972622974

Gene: PLIN1

Linked Data

• dbSNP Id: rs1964306750
• gnomAD v3: 15-89664894-G-A
• gnomAD v4: 15-89664894-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89664894G>A , CM000677.2:g.89664894G>A	GRCh38
NC_000015.9:g.90208125G>A , CM000677.1:g.90208125G>A	GRCh37
NC_000015.8:g.88009129G>A	NCBI36
NG_029172.1:g.19524C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000300055.10:c.*689C>T MANE Select	ENSP00000300055.5:n.*689C>T
ENST00000300055.9:c.*689C>T	ENSP00000300055.5:n.*689C>T
ENST00000430628.2:c.*689C>T	ENSP00000402167.2:n.*689C>T
ENST00000560330.1:c.171C>T	ENSP00000453426.1:p.Thr57=
NM_001145311.1:c.*689C>T	NP_001138783.1:n.*689C>T
NM_002666.4:c.*689C>T	NP_002657.3:n.*689C>T
XM_005254934.3:c.*689C>T	XP_005254991.1:n.*689C>T
XM_005254934.4:c.*689C>T	XP_005254991.1:n.*689C>T
NM_002666.5:c.*689C>T MANE Select	NP_002657.3:n.*689C>T
NM_001145311.2:c.*689C>T	NP_001138783.1:n.*689C>T