Canonical Allele Identifier: CA1140805105

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55052749C= , CM000663.2:g.55052749C=	GRCh38
NC_000001.10:g.55518422C= , CM000663.1:g.55518422C=	GRCh37
NC_000001.9:g.55291010C=	NCBI36
NG_009061.1:g.18203C= , LRG_275:g.18203C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.757C=	ENSP00000501161.2:p.Leu253=
ENST00000710286.1:c.1114C=	ENSP00000518176.1:p.Leu372=
ENST00000673903.1:c.382C=	ENSP00000501257.1:p.Leu128=
ENST00000302118.5:c.757C= MANE Select	ENSP00000303208.5:p.Leu253=
ENST00000490692.1:n.1578C=
NM_174936.3:c.757C= , LRG_275t1:c.757C=	NP_777596.2:p.Leu253=
NR_110451.1:n.416C=
NM_174936.4:c.757C= MANE Select	NP_777596.2:p.Leu253=
NR_110451.2:n.416C=