Canonical Allele Identifier: CA22767055

Gene: PCSK9

Linked Data

• dbSNP Id: rs938981232
• MyVariant Identifiers: chr1:g.55527153T>C (hg19) ; chr1:g.55061480T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061480T>C , CM000663.2:g.55061480T>C	GRCh38
NC_000001.10:g.55527153T>C , CM000663.1:g.55527153T>C	GRCh37
NC_000001.9:g.55299741T>C	NCBI36
NG_009061.1:g.26934T>C , LRG_275:g.26934T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*127T>C	ENSP00000501161.2:n.*127T>C
ENST00000710286.1:c.2144T>C	ENSP00000518176.1:p.Ile715Thr
ENST00000673903.1:c.1412T>C	ENSP00000501257.1:p.Ile471Thr
ENST00000673913.1:c.637T>C	ENSP00000501161.1:n.637T>C
ENST00000302118.5:c.1787T>C MANE Select	ENSP00000303208.5:p.Ile596Thr
ENST00000490692.1:n.2333T>C
NM_174936.3:c.1787T>C , LRG_275t1:c.1787T>C	NP_777596.2:p.Ile596Thr
NR_110451.1:n.1394T>C
XM_011541193.1:c.908T>C	XP_011539495.1:p.Ile303Thr
NM_174936.4:c.1787T>C MANE Select	NP_777596.2:p.Ile596Thr
NR_110451.2:n.1394T>C