Canonical Allele Identifier: CA393786325
Gene: PLIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89664888T>C , CM000677.2:g.89664888T>C GRCh38
NC_000015.9:g.90208119T>C , CM000677.1:g.90208119T>C GRCh37
NC_000015.8:g.88009123T>C NCBI36
NG_029172.1:g.19530A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000300055.10:c.*695A>G MANE Select ENSP00000300055.5:n.*695A>G
ENST00000300055.9:c.*695A>G ENSP00000300055.5:n.*695A>G
ENST00000430628.2:c.*695A>G ENSP00000402167.2:n.*695A>G
ENST00000560330.1:c.177A>G ENSP00000453426.1:p.Ile59Met
NM_001145311.1:c.*695A>G NP_001138783.1:n.*695A>G
NM_002666.4:c.*695A>G NP_002657.3:n.*695A>G
XM_005254934.3:c.*695A>G XP_005254991.1:n.*695A>G
XM_005254934.4:c.*695A>G XP_005254991.1:n.*695A>G
NM_002666.5:c.*695A>G MANE Select NP_002657.3:n.*695A>G
NM_001145311.2:c.*695A>G NP_001138783.1:n.*695A>G