Canonical Allele Identifier: CA037983

Gene: PCSK9

Linked Data

• dbSNP Id: rs367766879
• ExAC: 1:55525212 T / C
• gnomAD v2: 1-55525212-T-C
• gnomAD v3: 1-55059539-T-C
• gnomAD v4: 1-55059539-T-C
• MyVariant Identifiers: chr1:g.55525212T>C (hg19) ; chr1:g.55059539T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059539T>C , CM000663.2:g.55059539T>C	GRCh38
NC_000001.10:g.55525212T>C , CM000663.1:g.55525212T>C	GRCh37
NC_000001.9:g.55297800T>C	NCBI36
NG_009061.1:g.24993T>C , LRG_275:g.24993T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1557T>C	ENSP00000501161.2:p.Gly519=
ENST00000710286.1:c.1914T>C	ENSP00000518176.1:p.Gly638=
ENST00000673903.1:c.1182T>C	ENSP00000501257.1:p.Gly394=
ENST00000673913.1:c.297T>C	ENSP00000501161.1:p.Gly99=
ENST00000302118.5:c.1557T>C MANE Select	ENSP00000303208.5:p.Gly519=
ENST00000490692.1:n.2227+892T>C
NM_174936.3:c.1557T>C , LRG_275t1:c.1557T>C	NP_777596.2:p.Gly519=
NR_110451.1:n.1164T>C
XM_011541193.1:c.678T>C	XP_011539495.1:p.Gly226=
NM_174936.4:c.1557T>C MANE Select	NP_777596.2:p.Gly519=
NR_110451.2:n.1164T>C