Canonical Allele Identifier: CA340479761

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059525-T-C
• MyVariant Identifiers: chr1:g.55525198T>C (hg19) ; chr1:g.55059525T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059525T>C , CM000663.2:g.55059525T>C	GRCh38
NC_000001.10:g.55525198T>C , CM000663.1:g.55525198T>C	GRCh37
NC_000001.9:g.55297786T>C	NCBI36
NG_009061.1:g.24979T>C , LRG_275:g.24979T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1543T>C	ENSP00000501161.2:p.Phe515Leu
ENST00000710286.1:c.1900T>C	ENSP00000518176.1:p.Phe634Leu
ENST00000673903.1:c.1168T>C	ENSP00000501257.1:p.Phe390Leu
ENST00000673913.1:c.283T>C	ENSP00000501161.1:p.Phe95Leu
ENST00000302118.5:c.1543T>C MANE Select	ENSP00000303208.5:p.Phe515Leu
ENST00000490692.1:n.2227+878T>C
NM_174936.3:c.1543T>C , LRG_275t1:c.1543T>C	NP_777596.2:p.Phe515Leu
NR_110451.1:n.1150T>C
XM_011541193.1:c.664T>C	XP_011539495.1:p.Phe222Leu
NM_174936.4:c.1543T>C MANE Select	NP_777596.2:p.Phe515Leu
NR_110451.2:n.1150T>C