Canonical Allele Identifier: CA154698
Gene: PLIN1 HGNC NCBI
COSMIC:
COSM4418469 (not active)
MyVariant.info:
GRCh38 chr15:g.89667026G>A
GRCh37 chr15:g.90210257G>A
gnomAD v2:
15:90210257 G / A
gnomAD v3:
15:89667026 G / A
gnomAD v4:
chr15-89667026-G-A
Joint Max Group AF 0.40009211 (SAS)
Genomes Max Group AF 0.39652804 (SAS)
Exomes Max Group AF 0.39954847 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89667026G>A , CM000677.2:g.89667026G>A GRCh38
NC_000015.9:g.90210257G>A , CM000677.1:g.90210257G>A GRCh37
NC_000015.8:g.88011261G>A NCBI36
NG_029172.1:g.17392C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300055.10:c.1119C>T MANE Select ENSP00000300055.5:p.Val373=
ENST00000300055.9:c.1119C>T ENSP00000300055.5:p.Val373=
ENST00000430628.2:c.1119C>T ENSP00000402167.2:p.Val373=
ENST00000560330.1:c.123+72C>T ENSP00000453426.1:n.123+72C>T
NM_001145311.1:c.1119C>T NP_001138783.1:p.Val373=
NM_002666.4:c.1119C>T NP_002657.3:p.Val373=
XM_005254934.3:c.1119C>T XP_005254991.1:p.Val373=
XM_005254934.4:c.1119C>T XP_005254991.1:p.Val373=
NM_002666.5:c.1119C>T MANE Select NP_002657.3:p.Val373=
NM_001145311.2:c.1119C>T NP_001138783.1:p.Val373=
Search 100 bp 5'
Search 100 bp 3'