Canonical Allele Identifier: CA340479922

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059568-T-C
• MyVariant Identifiers: chr1:g.55525241T>C (hg19) ; chr1:g.55059568T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059568T>C , CM000663.2:g.55059568T>C	GRCh38
NC_000001.10:g.55525241T>C , CM000663.1:g.55525241T>C	GRCh37
NC_000001.9:g.55297829T>C	NCBI36
NG_009061.1:g.25022T>C , LRG_275:g.25022T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1586T>C	ENSP00000501161.2:p.Leu529Pro
ENST00000710286.1:c.1943T>C	ENSP00000518176.1:p.Leu648Pro
ENST00000673903.1:c.1211T>C	ENSP00000501257.1:p.Leu404Pro
ENST00000673913.1:c.326T>C	ENSP00000501161.1:p.Leu109Pro
ENST00000302118.5:c.1586T>C MANE Select	ENSP00000303208.5:p.Leu529Pro
ENST00000490692.1:n.2227+921T>C
NM_174936.3:c.1586T>C , LRG_275t1:c.1586T>C	NP_777596.2:p.Leu529Pro
NR_110451.1:n.1193T>C
XM_011541193.1:c.707T>C	XP_011539495.1:p.Leu236Pro
NM_174936.4:c.1586T>C MANE Select	NP_777596.2:p.Leu529Pro
NR_110451.2:n.1193T>C