Canonical Allele Identifier: CA22768706

Gene: PCSK9

Linked Data

• dbSNP Id: rs565851054
• gnomAD v2: 1-55529386-C-T
• gnomAD v3: 1-55063713-C-T
• gnomAD v4: 1-55063713-C-T
• MyVariant Identifiers: chr1:g.55529386C>T (hg19) ; chr1:g.55063713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063713C>T , CM000663.2:g.55063713C>T	GRCh38
NC_000001.10:g.55529386C>T , CM000663.1:g.55529386C>T	GRCh37
NC_000001.9:g.55301974C>T	NCBI36
NG_009061.1:g.29167C>T , LRG_275:g.29167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*548C>T	ENSP00000501161.2:n.*548C>T
ENST00000710286.1:c.*129C>T	ENSP00000518176.1:n.*129C>T
ENST00000673903.1:c.*129C>T	ENSP00000501257.1:n.*129C>T
ENST00000302118.5:c.*129C>T MANE Select	ENSP00000303208.5:n.*129C>T
ENST00000490692.1:n.2754C>T
NM_174936.3:c.*129C>T , LRG_275t1:c.*129C>T	NP_777596.2:n.*129C>T
NR_110451.1:n.1815C>T
XM_011541193.1:c.*129C>T	XP_011539495.1:n.*129C>T
NM_174936.4:c.*129C>T MANE Select	NP_777596.2:n.*129C>T
NR_110451.2:n.1815C>T