Canonical Allele Identifier: CA340474111

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55518422C>G (hg19) ; chr1:g.55052749C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.757C>G	ENSP00000501161.2:p.Leu253Val
ENST00000710286.1:c.1114C>G	ENSP00000518176.1:p.Leu372Val
ENST00000673903.1:c.382C>G	ENSP00000501257.1:p.Leu128Val
ENST00000302118.5:c.757C>G MANE Select	ENSP00000303208.5:p.Leu253Val
ENST00000490692.1:n.1578C>G
NM_174936.3:c.757C>G , LRG_275t1:c.757C>G	NP_777596.2:p.Leu253Val
NR_110451.1:n.416C>G
NM_174936.4:c.757C>G MANE Select	NP_777596.2:p.Leu253Val
NR_110451.2:n.416C>G