Canonical Allele Identifier: CA340480631

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063411-A-T
• MyVariant Identifiers: chr1:g.55529084A>T (hg19) ; chr1:g.55063411A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063411A>T , CM000663.2:g.55063411A>T	GRCh38
NC_000001.10:g.55529084A>T , CM000663.1:g.55529084A>T	GRCh37
NC_000001.9:g.55301672A>T	NCBI36
NG_009061.1:g.28865A>T , LRG_275:g.28865A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*246A>T	ENSP00000501161.2:n.*246A>T
ENST00000710286.1:c.2263A>T	ENSP00000518176.1:p.Ser755Cys
ENST00000673903.1:c.1531A>T	ENSP00000501257.1:p.Ser511Cys
ENST00000673913.1:c.756A>T	ENSP00000501161.1:n.756A>T
ENST00000302118.5:c.1906A>T MANE Select	ENSP00000303208.5:p.Ser636Cys
ENST00000490692.1:n.2452A>T
NM_174936.3:c.1906A>T , LRG_275t1:c.1906A>T	NP_777596.2:p.Ser636Cys
NR_110451.1:n.1513A>T
XM_011541193.1:c.1027A>T	XP_011539495.1:p.Ser343Cys
NM_174936.4:c.1906A>T MANE Select	NP_777596.2:p.Ser636Cys
NR_110451.2:n.1513A>T