Canonical Allele Identifier: CA340478872

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55524231A>C (hg19) ; chr1:g.55058558A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058558A>C , CM000663.2:g.55058558A>C	GRCh38
NC_000001.10:g.55524231A>C , CM000663.1:g.55524231A>C	GRCh37
NC_000001.9:g.55296819A>C	NCBI36
NG_009061.1:g.24012A>C , LRG_275:g.24012A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1414A>C	ENSP00000501161.2:p.Thr472Pro
ENST00000710286.1:c.1771A>C	ENSP00000518176.1:p.Thr591Pro
ENST00000673903.1:c.1039A>C	ENSP00000501257.1:p.Thr347Pro
ENST00000673913.1:c.154A>C	ENSP00000501161.1:p.Thr52Pro
ENST00000302118.5:c.1414A>C MANE Select	ENSP00000303208.5:p.Thr472Pro
ENST00000490692.1:n.2138A>C
NM_174936.3:c.1414A>C , LRG_275t1:c.1414A>C	NP_777596.2:p.Thr472Pro
NR_110451.1:n.1021A>C
XM_011541193.1:c.535A>C	XP_011539495.1:p.Thr179Pro
NM_174936.4:c.1414A>C MANE Select	NP_777596.2:p.Thr472Pro
NR_110451.2:n.1021A>C