Canonical Allele Identifier: CA22791473

Gene: PCSK9

Linked Data

• dbSNP Id: rs946541750
• gnomAD v4: 1-55039669-G-T
• MyVariant Identifiers: chr1:g.55505342G>T (hg19) ; chr1:g.55039669G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039669G>T , CM000663.2:g.55039669G>T	GRCh38
NC_000001.10:g.55505342G>T , CM000663.1:g.55505342G>T	GRCh37
NC_000001.9:g.55277930G>T	NCBI36
NG_009061.1:g.5123G>T , LRG_275:g.5123G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.-169G>T	ENSP00000501161.2:n.-169G>T
ENST00000710286.1:c.189G>T	ENSP00000518176.1:p.Gln63His
ENST00000673726.1:c.-169G>T	ENSP00000501004.1:n.-169G>T
ENST00000302118.5:c.-169G>T MANE Select	ENSP00000303208.5:n.-169G>T
NM_174936.3:c.-169G>T , LRG_275t1:c.-169G>T	NP_777596.2:n.-169G>T
NM_174936.4:c.-169G>T MANE Select	NP_777596.2:n.-169G>T