Canonical Allele Identifier: CA340480338

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644758254
• gnomAD v4: 1-55061468-G-C
• MyVariant Identifiers: chr1:g.55527141G>C (hg19) ; chr1:g.55061468G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061468G>C , CM000663.2:g.55061468G>C	GRCh38
NC_000001.10:g.55527141G>C , CM000663.1:g.55527141G>C	GRCh37
NC_000001.9:g.55299729G>C	NCBI36
NG_009061.1:g.26922G>C , LRG_275:g.26922G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*115G>C	ENSP00000501161.2:n.*115G>C
ENST00000710286.1:c.2132G>C	ENSP00000518176.1:p.Arg711Thr
ENST00000673903.1:c.1400G>C	ENSP00000501257.1:p.Arg467Thr
ENST00000673913.1:c.625G>C	ENSP00000501161.1:n.625G>C
ENST00000302118.5:c.1775G>C MANE Select	ENSP00000303208.5:p.Arg592Thr
ENST00000490692.1:n.2321G>C
NM_174936.3:c.1775G>C , LRG_275t1:c.1775G>C	NP_777596.2:p.Arg592Thr
NR_110451.1:n.1382G>C
XM_011541193.1:c.896G>C	XP_011539495.1:p.Arg299Thr
NM_174936.4:c.1775G>C MANE Select	NP_777596.2:p.Arg592Thr
NR_110451.2:n.1382G>C