Canonical Allele Identifier: CA393786339
Gene: PLIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89664890T>G , CM000677.2:g.89664890T>G GRCh38
NC_000015.9:g.90208121T>G , CM000677.1:g.90208121T>G GRCh37
NC_000015.8:g.88009125T>G NCBI36
NG_029172.1:g.19528A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000300055.10:c.*693A>C MANE Select ENSP00000300055.5:n.*693A>C
ENST00000300055.9:c.*693A>C ENSP00000300055.5:n.*693A>C
ENST00000430628.2:c.*693A>C ENSP00000402167.2:n.*693A>C
ENST00000560330.1:c.175A>C ENSP00000453426.1:p.Ile59Leu
NM_001145311.1:c.*693A>C NP_001138783.1:n.*693A>C
NM_002666.4:c.*693A>C NP_002657.3:n.*693A>C
XM_005254934.3:c.*693A>C XP_005254991.1:n.*693A>C
XM_005254934.4:c.*693A>C XP_005254991.1:n.*693A>C
NM_002666.5:c.*693A>C MANE Select NP_002657.3:n.*693A>C
NM_001145311.2:c.*693A>C NP_001138783.1:n.*693A>C