Canonical Allele Identifier: CA340480078

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55525313A>T (hg19) ; chr1:g.55059640A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059640A>T , CM000663.2:g.55059640A>T	GRCh38
NC_000001.10:g.55525313A>T , CM000663.1:g.55525313A>T	GRCh37
NC_000001.9:g.55297901A>T	NCBI36
NG_009061.1:g.25094A>T , LRG_275:g.25094A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1658A>T	ENSP00000501161.2:p.His553Leu
ENST00000710286.1:c.2015A>T	ENSP00000518176.1:p.His672Leu
ENST00000673903.1:c.1283A>T	ENSP00000501257.1:p.His428Leu
ENST00000673913.1:c.398A>T	ENSP00000501161.1:p.His133Leu
ENST00000302118.5:c.1658A>T MANE Select	ENSP00000303208.5:p.His553Leu
ENST00000490692.1:n.2227+993A>T
NM_174936.3:c.1658A>T , LRG_275t1:c.1658A>T	NP_777596.2:p.His553Leu
NR_110451.1:n.1265A>T
XM_011541193.1:c.779A>T	XP_011539495.1:p.His260Leu
NM_174936.4:c.1658A>T MANE Select	NP_777596.2:p.His553Leu
NR_110451.2:n.1265A>T