Canonical Allele Identifier: CA2743685339

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55040103T>C , CM000663.2:g.55040103T>C	GRCh38
NC_000001.10:g.55505776T>C , CM000663.1:g.55505776T>C	GRCh37
NC_000001.9:g.55278364T>C	NCBI36
NG_009061.1:g.5557T>C , LRG_275:g.5557T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.207+59T>C	ENSP00000501161.2:n.207+59T>C
ENST00000710286.1:c.564+59T>C	ENSP00000518176.1:n.564+59T>C
ENST00000673726.1:c.207+59T>C	ENSP00000501004.1:n.207+59T>C
ENST00000302118.5:c.207+59T>C MANE Select	ENSP00000303208.5:n.207+59T>C
NM_174936.3:c.207+59T>C , LRG_275t1:c.207+59T>C	NP_777596.2:n.207+59T>C
NM_174936.4:c.207+59T>C MANE Select	NP_777596.2:n.207+59T>C