Canonical Allele Identifier: CA340480417

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 3072653
• ClinVar RCV Id: RCV004013675
• gnomAD v4: 1-55061503-C-T
• MyVariant Identifiers: chr1:g.55527176C>T (hg19) ; chr1:g.55061503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061503C>T , CM000663.2:g.55061503C>T	GRCh38
NC_000001.10:g.55527176C>T , CM000663.1:g.55527176C>T	GRCh37
NC_000001.9:g.55299764C>T	NCBI36
NG_009061.1:g.26957C>T , LRG_275:g.26957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*150C>T	ENSP00000501161.2:n.*150C>T
ENST00000710286.1:c.2167C>T	ENSP00000518176.1:p.Pro723Ser
ENST00000673903.1:c.1435C>T	ENSP00000501257.1:p.Pro479Ser
ENST00000673913.1:c.660C>T	ENSP00000501161.1:n.660C>T
ENST00000302118.5:c.1810C>T MANE Select	ENSP00000303208.5:p.Pro604Ser
ENST00000490692.1:n.2356C>T
NM_174936.3:c.1810C>T , LRG_275t1:c.1810C>T	NP_777596.2:p.Pro604Ser
NR_110451.1:n.1417C>T
XM_011541193.1:c.931C>T	XP_011539495.1:p.Pro311Ser
NM_174936.4:c.1810C>T MANE Select	NP_777596.2:p.Pro604Ser
NR_110451.2:n.1417C>T