Canonical Allele Identifier: CA7728703
Gene: PLIN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89664988G>A
GRCh37 chr15:g.90208219G>A
gnomAD v2:
15:90208219 G / A
gnomAD v3:
15:89664988 G / A
gnomAD v4:
chr15-89664988-G-A
Joint Max Group AF 0.01010069 (NFE)
Genomes Max Group AF 0.0098458 (NFE)
Exomes Max Group AF 0.01001925 (NFE)
dbSNP:
12916735
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89664988G>A , CM000677.2:g.89664988G>A GRCh38
NC_000015.9:g.90208219G>A , CM000677.1:g.90208219G>A GRCh37
NC_000015.8:g.88009223G>A NCBI36
NG_029172.1:g.19430C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300055.10:c.*595C>T MANE Select ENSP00000300055.5:n.*595C>T
ENST00000300055.9:c.*595C>T ENSP00000300055.5:n.*595C>T
ENST00000430628.2:c.*595C>T ENSP00000402167.2:n.*595C>T
ENST00000560330.1:c.124-47C>T ENSP00000453426.1:n.124-47C>T
NM_001145311.1:c.*595C>T NP_001138783.1:n.*595C>T
NM_002666.4:c.*595C>T NP_002657.3:n.*595C>T
XM_005254934.3:c.*595C>T XP_005254991.1:n.*595C>T
XM_005254934.4:c.*595C>T XP_005254991.1:n.*595C>T
NM_002666.5:c.*595C>T MANE Select NP_002657.3:n.*595C>T
NM_001145311.2:c.*595C>T NP_001138783.1:n.*595C>T
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