Canonical Allele Identifier: CA041910

Gene: PCSK9

Linked Data

• dbSNP Id: rs771070411
• ExAC: 1:55509716 C / T
• gnomAD v2: 1-55509716-C-T
• gnomAD v3: 1-55044043-C-T
• gnomAD v4: 1-55044043-C-T
• MyVariant Identifiers: chr1:g.55509716C>T (hg19) ; chr1:g.55044043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044043C>T , CM000663.2:g.55044043C>T	GRCh38
NC_000001.10:g.55509716C>T , CM000663.1:g.55509716C>T	GRCh37
NC_000001.9:g.55282304C>T	NCBI36
NG_009061.1:g.9497C>T , LRG_275:g.9497C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.399+9C>T	ENSP00000501161.2:n.399+9C>T
ENST00000710286.1:c.756+9C>T	ENSP00000518176.1:n.756+9C>T
ENST00000673662.1:n.69+9C>T
ENST00000673726.1:c.399+9C>T	ENSP00000501004.1:n.399+9C>T
ENST00000673903.1:c.24+9C>T	ENSP00000501257.1:n.24+9C>T
ENST00000302118.5:c.399+9C>T MANE Select	ENSP00000303208.5:n.399+9C>T
NM_174936.3:c.399+9C>T , LRG_275t1:c.399+9C>T	NP_777596.2:n.399+9C>T
NR_110451.1:n.182+3640C>T
NM_174936.4:c.399+9C>T MANE Select	NP_777596.2:n.399+9C>T
NR_110451.2:n.182+3640C>T