Canonical Allele Identifier: CA972623002
Gene: PLIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1964308576
gnomAD v3: 15-89665000-A-G
gnomAD v4: 15-89665000-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89665000A>G , CM000677.2:g.89665000A>G GRCh38
NC_000015.9:g.90208231A>G , CM000677.1:g.90208231A>G GRCh37
NC_000015.8:g.88009235A>G NCBI36
NG_029172.1:g.19418T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300055.10:c.*583T>C MANE Select ENSP00000300055.5:n.*583T>C
ENST00000300055.9:c.*583T>C ENSP00000300055.5:n.*583T>C
ENST00000430628.2:c.*583T>C ENSP00000402167.2:n.*583T>C
ENST00000560330.1:c.124-59T>C ENSP00000453426.1:n.124-59T>C
NM_001145311.1:c.*583T>C NP_001138783.1:n.*583T>C
NM_002666.4:c.*583T>C NP_002657.3:n.*583T>C
XM_005254934.3:c.*583T>C XP_005254991.1:n.*583T>C
XM_005254934.4:c.*583T>C XP_005254991.1:n.*583T>C
NM_002666.5:c.*583T>C MANE Select NP_002657.3:n.*583T>C
NM_001145311.2:c.*583T>C NP_001138783.1:n.*583T>C
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