Canonical Allele Identifier: CA22768631

Gene: PCSK9

Linked Data

• dbSNP Id: rs970494615
• gnomAD v2: 1-55529297-G-T
• gnomAD v3: 1-55063624-G-T
• gnomAD v4: 1-55063624-G-T
• MyVariant Identifiers: chr1:g.55529297G>T (hg19) ; chr1:g.55063624G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063624G>T , CM000663.2:g.55063624G>T	GRCh38
NC_000001.10:g.55529297G>T , CM000663.1:g.55529297G>T	GRCh37
NC_000001.9:g.55301885G>T	NCBI36
NG_009061.1:g.29078G>T , LRG_275:g.29078G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*459G>T	ENSP00000501161.2:n.*459G>T
ENST00000710286.1:c.*40G>T	ENSP00000518176.1:n.*40G>T
ENST00000673903.1:c.*40G>T	ENSP00000501257.1:n.*40G>T
ENST00000302118.5:c.*40G>T MANE Select	ENSP00000303208.5:n.*40G>T
ENST00000490692.1:n.2665G>T
NM_174936.3:c.*40G>T , LRG_275t1:c.*40G>T	NP_777596.2:n.*40G>T
NR_110451.1:n.1726G>T
XM_011541193.1:c.*40G>T	XP_011539495.1:n.*40G>T
NM_174936.4:c.*40G>T MANE Select	NP_777596.2:n.*40G>T
NR_110451.2:n.1726G>T