Canonical Allele Identifier: CA274591155
Community Standard Title: NM_002666.5(PLIN1):c.964-72C>A
Gene: PLIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89667253G>T , CM000677.2:g.89667253G>T GRCh38
NC_000015.9:g.90210484G>T , CM000677.1:g.90210484G>T GRCh37
NC_000015.8:g.88011488G>T NCBI36
NG_029172.1:g.17165C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002666.5:c.964-72C>A MANE Select NP_002657.3:n.964-72C>A
ENST00000300055.10:c.964-72C>A MANE Select ENSP00000300055.5:n.964-72C>A
NM_001145311.1:c.964-72C>A NP_001138783.1:n.964-72C>A
NM_001145311.2:c.964-72C>A NP_001138783.1:n.964-72C>A
NM_002666.4:c.964-72C>A NP_002657.3:n.964-72C>A
ENST00000300055.9:c.964-72C>A ENSP00000300055.5:n.964-72C>A
ENST00000430628.2:c.964-72C>A ENSP00000402167.2:n.964-72C>A
ENST00000560330.1:c.40-72C>A ENSP00000453426.1:n.40-72C>A
XM_005254934.3:c.964-72C>A XP_005254991.1:n.964-72C>A
XM_005254934.4:c.964-72C>A XP_005254991.1:n.964-72C>A