Canonical Allele Identifier: CA2574381324

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059457A>T , CM000663.2:g.55059457A>T	GRCh38
NC_000001.10:g.55525130A>T , CM000663.1:g.55525130A>T	GRCh37
NC_000001.9:g.55297718A>T	NCBI36
NG_009061.1:g.24911A>T , LRG_275:g.24911A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1504-29A>T	ENSP00000501161.2:n.1504-29A>T
ENST00000710286.1:c.1861-29A>T	ENSP00000518176.1:n.1861-29A>T
ENST00000673903.1:c.1129-29A>T	ENSP00000501257.1:n.1129-29A>T
ENST00000673913.1:c.244-29A>T	ENSP00000501161.1:n.244-29A>T
ENST00000302118.5:c.1504-29A>T MANE Select	ENSP00000303208.5:n.1504-29A>T
ENST00000490692.1:n.2227+810A>T
NM_174936.3:c.1504-29A>T , LRG_275t1:c.1504-29A>T	NP_777596.2:n.1504-29A>T
NR_110451.1:n.1111-29A>T
XM_011541193.1:c.625-29A>T	XP_011539495.1:n.625-29A>T
NM_174936.4:c.1504-29A>T MANE Select	NP_777596.2:n.1504-29A>T
NR_110451.2:n.1111-29A>T