Canonical Allele Identifier: CA340480908

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063556-T-C
• MyVariant Identifiers: chr1:g.55529229T>C (hg19) ; chr1:g.55063556T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063556T>C , CM000663.2:g.55063556T>C	GRCh38
NC_000001.10:g.55529229T>C , CM000663.1:g.55529229T>C	GRCh37
NC_000001.9:g.55301817T>C	NCBI36
NG_009061.1:g.29010T>C , LRG_275:g.29010T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*391T>C	ENSP00000501161.2:n.*391T>C
ENST00000710286.1:c.2408T>C	ENSP00000518176.1:p.Leu803Pro
ENST00000673903.1:c.1676T>C	ENSP00000501257.1:p.Leu559Pro
ENST00000302118.5:c.2051T>C MANE Select	ENSP00000303208.5:p.Leu684Pro
ENST00000490692.1:n.2597T>C
NM_174936.3:c.2051T>C , LRG_275t1:c.2051T>C	NP_777596.2:p.Leu684Pro
NR_110451.1:n.1658T>C
XM_011541193.1:c.1172T>C	XP_011539495.1:p.Leu391Pro
NM_174936.4:c.2051T>C MANE Select	NP_777596.2:p.Leu684Pro
NR_110451.2:n.1658T>C