Canonical Allele Identifier: CA393786356
Gene: PLIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1280373404

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89664892C>T , CM000677.2:g.89664892C>T GRCh38
NC_000015.9:g.90208123C>T , CM000677.1:g.90208123C>T GRCh37
NC_000015.8:g.88009127C>T NCBI36
NG_029172.1:g.19526G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000300055.10:c.*691G>A MANE Select ENSP00000300055.5:n.*691G>A
ENST00000300055.9:c.*691G>A ENSP00000300055.5:n.*691G>A
ENST00000430628.2:c.*691G>A ENSP00000402167.2:n.*691G>A
ENST00000560330.1:c.173G>A ENSP00000453426.1:p.Cys58Tyr
NM_001145311.1:c.*691G>A NP_001138783.1:n.*691G>A
NM_002666.4:c.*691G>A NP_002657.3:n.*691G>A
XM_005254934.3:c.*691G>A XP_005254991.1:n.*691G>A
XM_005254934.4:c.*691G>A XP_005254991.1:n.*691G>A
NM_002666.5:c.*691G>A MANE Select NP_002657.3:n.*691G>A
NM_001145311.2:c.*691G>A NP_001138783.1:n.*691G>A