Canonical Allele Identifier: CA14155011
Gene: PLIN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89665079A>T
GRCh37 chr15:g.90208310A>T
gnomAD v2:
15:90208310 A / T
gnomAD v3:
15:89665079 A / T
gnomAD v4:
chr15-89665079-A-T
Joint Max Group AF 0.40629228 (EAS)
Genomes Max Group AF 0.39660039 (EAS)
Exomes Max Group AF 0.40635318 (EAS)
dbSNP:
1052700
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89665079A>T , CM000677.2:g.89665079A>T GRCh38
NC_000015.9:g.90208310A>T , CM000677.1:g.90208310A>T GRCh37
NC_000015.8:g.88009314A>T NCBI36
NG_029172.1:g.19339T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300055.10:c.*504T>A MANE Select ENSP00000300055.5:n.*504T>A
ENST00000300055.9:c.*504T>A ENSP00000300055.5:n.*504T>A
ENST00000430628.2:c.*504T>A ENSP00000402167.2:n.*504T>A
ENST00000560330.1:c.124-138T>A ENSP00000453426.1:n.124-138T>A
NM_001145311.1:c.*504T>A NP_001138783.1:n.*504T>A
NM_002666.4:c.*504T>A NP_002657.3:n.*504T>A
XM_005254934.3:c.*504T>A XP_005254991.1:n.*504T>A
XM_005254934.4:c.*504T>A XP_005254991.1:n.*504T>A
NM_002666.5:c.*504T>A MANE Select NP_002657.3:n.*504T>A
NM_001145311.2:c.*504T>A NP_001138783.1:n.*504T>A
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