Canonical Allele Identifier: CA14151367
Gene: PLIN1 HGNC NCBI
COSMIC:
COSN17965935 (not active)
MyVariant.info:
GRCh38 chr15:g.89668592C>T
GRCh37 chr15:g.90211823C>T
gnomAD v2:
15:90211823 C / T
gnomAD v3:
15:89668592 C / T
gnomAD v4:
chr15-89668592-C-T
Joint Max Group AF 0.3696446 (EAS)
Genomes Max Group AF 0.3696446 (EAS)
dbSNP:
894160
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89668592C>T , CM000677.2:g.89668592C>T GRCh38
NC_000015.9:g.90211823C>T , CM000677.1:g.90211823C>T GRCh37
NC_000015.8:g.88012827C>T NCBI36
NG_029172.1:g.15826G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300055.10:c.772-799G>A MANE Select ENSP00000300055.5:n.772-799G>A
ENST00000300055.9:c.772-799G>A ENSP00000300055.5:n.772-799G>A
ENST00000430628.2:c.772-799G>A ENSP00000402167.2:n.772-799G>A
NM_001145311.1:c.772-799G>A NP_001138783.1:n.772-799G>A
NM_002666.4:c.772-799G>A NP_002657.3:n.772-799G>A
XM_005254934.3:c.772-799G>A XP_005254991.1:n.772-799G>A
XM_005254934.4:c.772-799G>A XP_005254991.1:n.772-799G>A
NM_002666.5:c.772-799G>A MANE Select NP_002657.3:n.772-799G>A
NM_001145311.2:c.772-799G>A NP_001138783.1:n.772-799G>A
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