Canonical Allele Identifier: CA041662

Gene: PCSK9

Linked Data

• dbSNP Id: rs760180148
• ExAC: 1:55509688 G / C
• gnomAD v2: 1-55509688-G-C
• gnomAD v4: 1-55044015-G-C
• MyVariant Identifiers: chr1:g.55509688G>C (hg19) ; chr1:g.55044015G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044015G>C , CM000663.2:g.55044015G>C	GRCh38
NC_000001.10:g.55509688G>C , CM000663.1:g.55509688G>C	GRCh37
NC_000001.9:g.55282276G>C	NCBI36
NG_009061.1:g.9469G>C , LRG_275:g.9469G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.380G>C	ENSP00000501161.2:p.Ser127Thr
ENST00000710286.1:c.737G>C	ENSP00000518176.1:p.Ser246Thr
ENST00000673662.1:n.50G>C
ENST00000673726.1:c.380G>C	ENSP00000501004.1:p.Ser127Thr
ENST00000673903.1:c.5G>C	ENSP00000501257.1:p.Ser2Thr
ENST00000302118.5:c.380G>C MANE Select	ENSP00000303208.5:p.Ser127Thr
NM_174936.3:c.380G>C , LRG_275t1:c.380G>C	NP_777596.2:p.Ser127Thr
NR_110451.1:n.182+3612G>C
NM_174936.4:c.380G>C MANE Select	NP_777596.2:p.Ser127Thr
NR_110451.2:n.182+3612G>C