Canonical Allele Identifier: CA417960436

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059605-A-C
• MyVariant Identifiers: chr1:g.55525278A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059605A>C , CM000663.2:g.55059605A>C	GRCh38
NC_000001.10:g.55525278A>C , CM000663.1:g.55525278A>C	GRCh37
NC_000001.9:g.55297866A>C	NCBI36
NG_009061.1:g.25059A>C , LRG_275:g.25059A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1623A>C	ENSP00000501161.2:p.Pro541=
ENST00000710286.1:c.1980A>C	ENSP00000518176.1:p.Pro660=
ENST00000673903.1:c.1248A>C	ENSP00000501257.1:p.Pro416=
ENST00000673913.1:c.363A>C	ENSP00000501161.1:p.Pro121=
ENST00000302118.5:c.1623A>C MANE Select	ENSP00000303208.5:p.Pro541=
ENST00000490692.1:n.2227+958A>C
NM_174936.3:c.1623A>C , LRG_275t1:c.1623A>C	NP_777596.2:p.Pro541=
NR_110451.1:n.1230A>C
XM_011541193.1:c.744A>C	XP_011539495.1:p.Pro248=
NM_174936.4:c.1623A>C MANE Select	NP_777596.2:p.Pro541=
NR_110451.2:n.1230A>C