Canonical Allele Identifier: CA340479765

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55525199T>C (hg19) ; chr1:g.55059526T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059526T>C , CM000663.2:g.55059526T>C	GRCh38
NC_000001.10:g.55525199T>C , CM000663.1:g.55525199T>C	GRCh37
NC_000001.9:g.55297787T>C	NCBI36
NG_009061.1:g.24980T>C , LRG_275:g.24980T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1544T>C	ENSP00000501161.2:p.Phe515Ser
ENST00000710286.1:c.1901T>C	ENSP00000518176.1:p.Phe634Ser
ENST00000673903.1:c.1169T>C	ENSP00000501257.1:p.Phe390Ser
ENST00000673913.1:c.284T>C	ENSP00000501161.1:p.Phe95Ser
ENST00000302118.5:c.1544T>C MANE Select	ENSP00000303208.5:p.Phe515Ser
ENST00000490692.1:n.2227+879T>C
NM_174936.3:c.1544T>C , LRG_275t1:c.1544T>C	NP_777596.2:p.Phe515Ser
NR_110451.1:n.1151T>C
XM_011541193.1:c.665T>C	XP_011539495.1:p.Phe222Ser
NM_174936.4:c.1544T>C MANE Select	NP_777596.2:p.Phe515Ser
NR_110451.2:n.1151T>C