Canonical Allele Identifier: CA340480359

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644758379
• gnomAD v4: 1-55061477-G-C
• MyVariant Identifiers: chr1:g.55527150G>C (hg19) ; chr1:g.55061477G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061477G>C , CM000663.2:g.55061477G>C	GRCh38
NC_000001.10:g.55527150G>C , CM000663.1:g.55527150G>C	GRCh37
NC_000001.9:g.55299738G>C	NCBI36
NG_009061.1:g.26931G>C , LRG_275:g.26931G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*124G>C	ENSP00000501161.2:n.*124G>C
ENST00000710286.1:c.2141G>C	ENSP00000518176.1:p.Ser714Thr
ENST00000673903.1:c.1409G>C	ENSP00000501257.1:p.Ser470Thr
ENST00000673913.1:c.634G>C	ENSP00000501161.1:n.634G>C
ENST00000302118.5:c.1784G>C MANE Select	ENSP00000303208.5:p.Ser595Thr
ENST00000490692.1:n.2330G>C
NM_174936.3:c.1784G>C , LRG_275t1:c.1784G>C	NP_777596.2:p.Ser595Thr
NR_110451.1:n.1391G>C
XM_011541193.1:c.905G>C	XP_011539495.1:p.Ser302Thr
NM_174936.4:c.1784G>C MANE Select	NP_777596.2:p.Ser595Thr
NR_110451.2:n.1391G>C