Canonical Allele Identifier: CA340480626

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529082G>C (hg19) ; chr1:g.55063409G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063409G>C , CM000663.2:g.55063409G>C	GRCh38
NC_000001.10:g.55529082G>C , CM000663.1:g.55529082G>C	GRCh37
NC_000001.9:g.55301670G>C	NCBI36
NG_009061.1:g.28863G>C , LRG_275:g.28863G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*244G>C	ENSP00000501161.2:n.*244G>C
ENST00000710286.1:c.2261G>C	ENSP00000518176.1:p.Cys754Ser
ENST00000673903.1:c.1529G>C	ENSP00000501257.1:p.Cys510Ser
ENST00000673913.1:c.754G>C	ENSP00000501161.1:n.754G>C
ENST00000302118.5:c.1904G>C MANE Select	ENSP00000303208.5:p.Cys635Ser
ENST00000490692.1:n.2450G>C
NM_174936.3:c.1904G>C , LRG_275t1:c.1904G>C	NP_777596.2:p.Cys635Ser
NR_110451.1:n.1511G>C
XM_011541193.1:c.1025G>C	XP_011539495.1:p.Cys342Ser
NM_174936.4:c.1904G>C MANE Select	NP_777596.2:p.Cys635Ser
NR_110451.2:n.1511G>C