Canonical Allele Identifier: CA340478861

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 440722
• ClinVar RCV Id: RCV000508856
• dbSNP Id: rs1553137699
• MyVariant Identifiers: chr1:g.55524228G>T (hg19) ; chr1:g.55058555G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058555G>T , CM000663.2:g.55058555G>T	GRCh38
NC_000001.10:g.55524228G>T , CM000663.1:g.55524228G>T	GRCh37
NC_000001.9:g.55296816G>T	NCBI36
NG_009061.1:g.24009G>T , LRG_275:g.24009G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.1411G>T	ENSP00000501161.2:p.Ala471Ser
ENST00000710286.1:c.1768G>T	ENSP00000518176.1:p.Ala590Ser
ENST00000673903.1:c.1036G>T	ENSP00000501257.1:p.Ala346Ser
ENST00000673913.1:c.151G>T	ENSP00000501161.1:p.Ala51Ser
ENST00000302118.5:c.1411G>T MANE Select	ENSP00000303208.5:p.Ala471Ser
ENST00000490692.1:n.2135G>T
NM_174936.3:c.1411G>T , LRG_275t1:c.1411G>T	NP_777596.2:p.Ala471Ser
NR_110451.1:n.1018G>T
XM_011541193.1:c.532G>T	XP_011539495.1:p.Ala178Ser
NM_174936.4:c.1411G>T MANE Select	NP_777596.2:p.Ala471Ser
NR_110451.2:n.1018G>T