Canonical Allele Identifier: CA340480495

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527210T>C (hg19) ; chr1:g.55061537T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061537T>C , CM000663.2:g.55061537T>C	GRCh38
NC_000001.10:g.55527210T>C , CM000663.1:g.55527210T>C	GRCh37
NC_000001.9:g.55299798T>C	NCBI36
NG_009061.1:g.26991T>C , LRG_275:g.26991T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*184T>C	ENSP00000501161.2:n.*184T>C
ENST00000710286.1:c.2201T>C	ENSP00000518176.1:p.Ile734Thr
ENST00000673903.1:c.1469T>C	ENSP00000501257.1:p.Ile490Thr
ENST00000673913.1:c.694T>C	ENSP00000501161.1:n.694T>C
ENST00000302118.5:c.1844T>C MANE Select	ENSP00000303208.5:p.Ile615Thr
ENST00000490692.1:n.2390T>C
NM_174936.3:c.1844T>C , LRG_275t1:c.1844T>C	NP_777596.2:p.Ile615Thr
NR_110451.1:n.1451T>C
XM_011541193.1:c.965T>C	XP_011539495.1:p.Ile322Thr
NM_174936.4:c.1844T>C MANE Select	NP_777596.2:p.Ile615Thr
NR_110451.2:n.1451T>C