Canonical Allele Identifier: CA393786375
Gene: PLIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89664895G>T , CM000677.2:g.89664895G>T GRCh38
NC_000015.9:g.90208126G>T , CM000677.1:g.90208126G>T GRCh37
NC_000015.8:g.88009130G>T NCBI36
NG_029172.1:g.19523C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000300055.10:c.*688C>A MANE Select ENSP00000300055.5:n.*688C>A
ENST00000300055.9:c.*688C>A ENSP00000300055.5:n.*688C>A
ENST00000430628.2:c.*688C>A ENSP00000402167.2:n.*688C>A
ENST00000560330.1:c.170C>A ENSP00000453426.1:p.Thr57Asn
NM_001145311.1:c.*688C>A NP_001138783.1:n.*688C>A
NM_002666.4:c.*688C>A NP_002657.3:n.*688C>A
XM_005254934.3:c.*688C>A XP_005254991.1:n.*688C>A
XM_005254934.4:c.*688C>A XP_005254991.1:n.*688C>A
NM_002666.5:c.*688C>A MANE Select NP_002657.3:n.*688C>A
NM_001145311.2:c.*688C>A NP_001138783.1:n.*688C>A