Canonical Allele Identifier: CA340480640

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 919880
• ClinVar RCV Id: RCV001178300
• dbSNP Id: rs1644777349
• MyVariant Identifiers: chr1:g.55529087G>T (hg19) ; chr1:g.55063414G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063414G>T , CM000663.2:g.55063414G>T	GRCh38
NC_000001.10:g.55529087G>T , CM000663.1:g.55529087G>T	GRCh37
NC_000001.9:g.55301675G>T	NCBI36
NG_009061.1:g.28868G>T , LRG_275:g.28868G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*249G>T	ENSP00000501161.2:n.*249G>T
ENST00000710286.1:c.2266G>T	ENSP00000518176.1:p.Ala756Ser
ENST00000673903.1:c.1534G>T	ENSP00000501257.1:p.Ala512Ser
ENST00000673913.1:c.759G>T	ENSP00000501161.1:n.759G>T
ENST00000302118.5:c.1909G>T MANE Select	ENSP00000303208.5:p.Ala637Ser
ENST00000490692.1:n.2455G>T
NM_174936.3:c.1909G>T , LRG_275t1:c.1909G>T	NP_777596.2:p.Ala637Ser
NR_110451.1:n.1516G>T
XM_011541193.1:c.1030G>T	XP_011539495.1:p.Ala344Ser
NM_174936.4:c.1909G>T MANE Select	NP_777596.2:p.Ala637Ser
NR_110451.2:n.1516G>T