Canonical Allele Identifier: CA340480960

Gene: PCSK9

Linked Data

• dbSNP Id: rs1208335900
• gnomAD v2: 1-55529254-G-T
• MyVariant Identifiers: chr1:g.55529254G>T (hg19) ; chr1:g.55063581G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063581G>T , CM000663.2:g.55063581G>T	GRCh38
NC_000001.10:g.55529254G>T , CM000663.1:g.55529254G>T	GRCh37
NC_000001.9:g.55301842G>T	NCBI36
NG_009061.1:g.29035G>T , LRG_275:g.29035G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*416G>T	ENSP00000501161.2:n.*416G>T
ENST00000710286.1:c.2433G>T	ENSP00000518176.1:p.Gln811His
ENST00000673903.1:c.1701G>T	ENSP00000501257.1:p.Gln567His
ENST00000302118.5:c.2076G>T MANE Select	ENSP00000303208.5:p.Gln692His
ENST00000490692.1:n.2622G>T
NM_174936.3:c.2076G>T , LRG_275t1:c.2076G>T	NP_777596.2:p.Gln692His
NR_110451.1:n.1683G>T
XM_011541193.1:c.1197G>T	XP_011539495.1:p.Gln399His
NM_174936.4:c.2076G>T MANE Select	NP_777596.2:p.Gln692His
NR_110451.2:n.1683G>T