Canonical Allele Identifier: CA038957

Gene: PCSK9

Linked Data

• dbSNP Id: rs760011800
• ExAC: 1:55527180 G / C
• gnomAD v2: 1-55527180-G-C
• MyVariant Identifiers: chr1:g.55527180G>C (hg19) ; chr1:g.55061507G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061507G>C , CM000663.2:g.55061507G>C	GRCh38
NC_000001.10:g.55527180G>C , CM000663.1:g.55527180G>C	GRCh37
NC_000001.9:g.55299768G>C	NCBI36
NG_009061.1:g.26961G>C , LRG_275:g.26961G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*154G>C	ENSP00000501161.2:n.*154G>C
ENST00000710286.1:c.2171G>C	ENSP00000518176.1:p.Gly724Ala
ENST00000673903.1:c.1439G>C	ENSP00000501257.1:p.Gly480Ala
ENST00000673913.1:c.664G>C	ENSP00000501161.1:n.664G>C
ENST00000302118.5:c.1814G>C MANE Select	ENSP00000303208.5:p.Gly605Ala
ENST00000490692.1:n.2360G>C
NM_174936.3:c.1814G>C , LRG_275t1:c.1814G>C	NP_777596.2:p.Gly605Ala
NR_110451.1:n.1421G>C
XM_011541193.1:c.935G>C	XP_011539495.1:p.Gly312Ala
NM_174936.4:c.1814G>C MANE Select	NP_777596.2:p.Gly605Ala
NR_110451.2:n.1421G>C