Canonical Allele Identifier: CA2558767291

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039706T>C , CM000663.2:g.55039706T>C	GRCh38
NC_000001.10:g.55505379T>C , CM000663.1:g.55505379T>C	GRCh37
NC_000001.9:g.55277967T>C	NCBI36
NG_009061.1:g.5160T>C , LRG_275:g.5160T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.-132T>C	ENSP00000501161.2:n.-132T>C
ENST00000710286.1:c.226T>C	ENSP00000518176.1:p.Phe76Leu
ENST00000673726.1:c.-132T>C	ENSP00000501004.1:n.-132T>C
ENST00000302118.5:c.-132T>C MANE Select	ENSP00000303208.5:n.-132T>C
NM_174936.3:c.-132T>C , LRG_275t1:c.-132T>C	NP_777596.2:n.-132T>C
NM_174936.4:c.-132T>C MANE Select	NP_777596.2:n.-132T>C