Canonical Allele Identifier: CA340480954

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063579-C-T
• COSMIC: COSM5628550
• MyVariant Identifiers: chr1:g.55529252C>T (hg19) ; chr1:g.55063579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063579C>T , CM000663.2:g.55063579C>T	GRCh38
NC_000001.10:g.55529252C>T , CM000663.1:g.55529252C>T	GRCh37
NC_000001.9:g.55301840C>T	NCBI36
NG_009061.1:g.29033C>T , LRG_275:g.29033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*414C>T	ENSP00000501161.2:n.*414C>T
ENST00000710286.1:c.2431C>T	ENSP00000518176.1:p.Gln811Ter
ENST00000673903.1:c.1699C>T	ENSP00000501257.1:p.Gln567Ter
ENST00000302118.5:c.2074C>T MANE Select	ENSP00000303208.5:p.Gln692Ter
ENST00000490692.1:n.2620C>T
NM_174936.3:c.2074C>T , LRG_275t1:c.2074C>T	NP_777596.2:p.Gln692Ter
NR_110451.1:n.1681C>T
XM_011541193.1:c.1195C>T	XP_011539495.1:p.Gln399Ter
NM_174936.4:c.2074C>T MANE Select	NP_777596.2:p.Gln692Ter
NR_110451.2:n.1681C>T