Canonical Allele Identifier: CA340480680

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529109T>C (hg19) ; chr1:g.55063436T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063436T>C , CM000663.2:g.55063436T>C	GRCh38
NC_000001.10:g.55529109T>C , CM000663.1:g.55529109T>C	GRCh37
NC_000001.9:g.55301697T>C	NCBI36
NG_009061.1:g.28890T>C , LRG_275:g.28890T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*271T>C	ENSP00000501161.2:n.*271T>C
ENST00000710286.1:c.2288T>C	ENSP00000518176.1:p.Val763Ala
ENST00000673903.1:c.1556T>C	ENSP00000501257.1:p.Val519Ala
ENST00000673913.1:c.781T>C	ENSP00000501161.1:n.781T>C
ENST00000302118.5:c.1931T>C MANE Select	ENSP00000303208.5:p.Val644Ala
ENST00000490692.1:n.2477T>C
NM_174936.3:c.1931T>C , LRG_275t1:c.1931T>C	NP_777596.2:p.Val644Ala
NR_110451.1:n.1538T>C
XM_011541193.1:c.1052T>C	XP_011539495.1:p.Val351Ala
NM_174936.4:c.1931T>C MANE Select	NP_777596.2:p.Val644Ala
NR_110451.2:n.1538T>C