Canonical Allele Identifier: CA154702
Gene: PLIN1 HGNC NCBI
COSMIC:
COSM5002355 (not active)
MyVariant.info:
GRCh38 chr15:g.89669998G>C
GRCh37 chr15:g.90213229G>C
Revel Score:
ENST00000300055 (MANE Select) 0.028
ENST00000430628 0.028
gnomAD v2:
15:90213229 G / C
gnomAD v3:
15:89669998 G / C
gnomAD v4:
chr15-89669998-G-C
Joint Max Group AF 0.99685453 (NFE)
Genomes Max Group AF 0.99157624 (NFE)
Exomes Max Group AF 0.99684008 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89669998G>C , CM000677.2:g.89669998G>C GRCh38
NC_000015.9:g.90213229G>C , CM000677.1:g.90213229G>C GRCh37
NC_000015.8:g.88014233G>C NCBI36
NG_029172.1:g.14420C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300055.10:c.580C>G MANE Select ENSP00000300055.5:p.Pro194Ala
ENST00000300055.9:c.580C>G ENSP00000300055.5:p.Pro194Ala
ENST00000430628.2:c.580C>G ENSP00000402167.2:p.Pro194Ala
NM_001145311.1:c.580C>G NP_001138783.1:p.Pro194Ala
NM_002666.4:c.580C>G NP_002657.3:p.Pro194Ala
XM_005254934.3:c.580C>G XP_005254991.1:p.Pro194Ala
XM_005254934.4:c.580C>G XP_005254991.1:p.Pro194Ala
NM_002666.5:c.580C>G MANE Select NP_002657.3:p.Pro194Ala
NM_001145311.2:c.580C>G NP_001138783.1:p.Pro194Ala
Search 100 bp 5'
Search 100 bp 3'