Canonical Allele Identifier: CA417960652

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529140T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063467T>C , CM000663.2:g.55063467T>C	GRCh38
NC_000001.10:g.55529140T>C , CM000663.1:g.55529140T>C	GRCh37
NC_000001.9:g.55301728T>C	NCBI36
NG_009061.1:g.28921T>C , LRG_275:g.28921T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*302T>C	ENSP00000501161.2:n.*302T>C
ENST00000710286.1:c.2319T>C	ENSP00000518176.1:p.Cys773=
ENST00000673903.1:c.1587T>C	ENSP00000501257.1:p.Cys529=
ENST00000673913.1:c.812T>C	ENSP00000501161.1:n.812T>C
ENST00000302118.5:c.1962T>C MANE Select	ENSP00000303208.5:p.Cys654=
ENST00000490692.1:n.2508T>C
NM_174936.3:c.1962T>C , LRG_275t1:c.1962T>C	NP_777596.2:p.Cys654=
NR_110451.1:n.1569T>C
XM_011541193.1:c.1083T>C	XP_011539495.1:p.Cys361=
NM_174936.4:c.1962T>C MANE Select	NP_777596.2:p.Cys654=
NR_110451.2:n.1569T>C