Canonical Allele Identifier: CA340474155

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55518433A>T (hg19) ; chr1:g.55052760A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.768A>T	ENSP00000501161.2:p.Gln256His
ENST00000710286.1:c.1125A>T	ENSP00000518176.1:p.Gln375His
ENST00000673903.1:c.393A>T	ENSP00000501257.1:p.Gln131His
ENST00000302118.5:c.768A>T MANE Select	ENSP00000303208.5:p.Gln256His
ENST00000490692.1:n.1589A>T
NM_174936.3:c.768A>T , LRG_275t1:c.768A>T	NP_777596.2:p.Gln256His
NR_110451.1:n.427A>T
NM_174936.4:c.768A>T MANE Select	NP_777596.2:p.Gln256His
NR_110451.2:n.427A>T