Canonical Allele Identifier: CA340480572

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529057G>T (hg19) ; chr1:g.55063384G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063384G>T , CM000663.2:g.55063384G>T	GRCh38
NC_000001.10:g.55529057G>T , CM000663.1:g.55529057G>T	GRCh37
NC_000001.9:g.55301645G>T	NCBI36
NG_009061.1:g.28838G>T , LRG_275:g.28838G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*219G>T	ENSP00000501161.2:n.*219G>T
ENST00000710286.1:c.2236G>T	ENSP00000518176.1:p.Glu746Ter
ENST00000673903.1:c.1504G>T	ENSP00000501257.1:p.Glu502Ter
ENST00000673913.1:c.729G>T	ENSP00000501161.1:n.729G>T
ENST00000302118.5:c.1879G>T MANE Select	ENSP00000303208.5:p.Glu627Ter
ENST00000490692.1:n.2425G>T
NM_174936.3:c.1879G>T , LRG_275t1:c.1879G>T	NP_777596.2:p.Glu627Ter
NR_110451.1:n.1486G>T
XM_011541193.1:c.1000G>T	XP_011539495.1:p.Glu334Ter
NM_174936.4:c.1879G>T MANE Select	NP_777596.2:p.Glu627Ter
NR_110451.2:n.1486G>T