Canonical Allele Identifier: CA417960671

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529167T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063494T>C , CM000663.2:g.55063494T>C	GRCh38
NC_000001.10:g.55529167T>C , CM000663.1:g.55529167T>C	GRCh37
NC_000001.9:g.55301755T>C	NCBI36
NG_009061.1:g.28948T>C , LRG_275:g.28948T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*329T>C	ENSP00000501161.2:n.*329T>C
ENST00000710286.1:c.2346T>C	ENSP00000518176.1:p.Thr782=
ENST00000673903.1:c.1614T>C	ENSP00000501257.1:p.Thr538=
ENST00000673913.1:c.839T>C	ENSP00000501161.1:n.839T>C
ENST00000302118.5:c.1989T>C MANE Select	ENSP00000303208.5:p.Thr663=
ENST00000490692.1:n.2535T>C
NM_174936.3:c.1989T>C , LRG_275t1:c.1989T>C	NP_777596.2:p.Thr663=
NR_110451.1:n.1596T>C
XM_011541193.1:c.1110T>C	XP_011539495.1:p.Thr370=
NM_174936.4:c.1989T>C MANE Select	NP_777596.2:p.Thr663=
NR_110451.2:n.1596T>C