Canonical Allele Identifier: CA393786388
Gene: PLIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89664898A>C , CM000677.2:g.89664898A>C GRCh38
NC_000015.9:g.90208129A>C , CM000677.1:g.90208129A>C GRCh37
NC_000015.8:g.88009133A>C NCBI36
NG_029172.1:g.19520T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000300055.10:c.*685T>G MANE Select ENSP00000300055.5:n.*685T>G
ENST00000300055.9:c.*685T>G ENSP00000300055.5:n.*685T>G
ENST00000430628.2:c.*685T>G ENSP00000402167.2:n.*685T>G
ENST00000560330.1:c.167T>G ENSP00000453426.1:p.Phe56Cys
NM_001145311.1:c.*685T>G NP_001138783.1:n.*685T>G
NM_002666.4:c.*685T>G NP_002657.3:n.*685T>G
XM_005254934.3:c.*685T>G XP_005254991.1:n.*685T>G
XM_005254934.4:c.*685T>G XP_005254991.1:n.*685T>G
NM_002666.5:c.*685T>G MANE Select NP_002657.3:n.*685T>G
NM_001145311.2:c.*685T>G NP_001138783.1:n.*685T>G