Canonical Allele Identifier: CA340479942

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059577-C-T
• MyVariant Identifiers: chr1:g.55525250C>T (hg19) ; chr1:g.55059577C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059577C>T , CM000663.2:g.55059577C>T	GRCh38
NC_000001.10:g.55525250C>T , CM000663.1:g.55525250C>T	GRCh37
NC_000001.9:g.55297838C>T	NCBI36
NG_009061.1:g.25031C>T , LRG_275:g.25031C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1595C>T	ENSP00000501161.2:p.Ala532Val
ENST00000710286.1:c.1952C>T	ENSP00000518176.1:p.Ala651Val
ENST00000673903.1:c.1220C>T	ENSP00000501257.1:p.Ala407Val
ENST00000673913.1:c.335C>T	ENSP00000501161.1:p.Ala112Val
ENST00000302118.5:c.1595C>T MANE Select	ENSP00000303208.5:p.Ala532Val
ENST00000490692.1:n.2227+930C>T
NM_174936.3:c.1595C>T , LRG_275t1:c.1595C>T	NP_777596.2:p.Ala532Val
NR_110451.1:n.1202C>T
XM_011541193.1:c.716C>T	XP_011539495.1:p.Ala239Val
NM_174936.4:c.1595C>T MANE Select	NP_777596.2:p.Ala532Val
NR_110451.2:n.1202C>T