Canonical Allele Identifier: CA418181164

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55518433A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55052760A>G , CM000663.2:g.55052760A>G	GRCh38
NC_000001.10:g.55518433A>G , CM000663.1:g.55518433A>G	GRCh37
NC_000001.9:g.55291021A>G	NCBI36
NG_009061.1:g.18214A>G , LRG_275:g.18214A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.768A>G	ENSP00000501161.2:p.Gln256=
ENST00000710286.1:c.1125A>G	ENSP00000518176.1:p.Gln375=
ENST00000673903.1:c.393A>G	ENSP00000501257.1:p.Gln131=
ENST00000302118.5:c.768A>G MANE Select	ENSP00000303208.5:p.Gln256=
ENST00000490692.1:n.1589A>G
NM_174936.3:c.768A>G , LRG_275t1:c.768A>G	NP_777596.2:p.Gln256=
NR_110451.1:n.427A>G
NM_174936.4:c.768A>G MANE Select	NP_777596.2:p.Gln256=
NR_110451.2:n.427A>G