Canonical Allele Identifier: CA340480476

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527202G>C (hg19) ; chr1:g.55061529G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061529G>C , CM000663.2:g.55061529G>C	GRCh38
NC_000001.10:g.55527202G>C , CM000663.1:g.55527202G>C	GRCh37
NC_000001.9:g.55299790G>C	NCBI36
NG_009061.1:g.26983G>C , LRG_275:g.26983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*176G>C	ENSP00000501161.2:n.*176G>C
ENST00000710286.1:c.2193G>C	ENSP00000518176.1:p.Glu731Asp
ENST00000673903.1:c.1461G>C	ENSP00000501257.1:p.Glu487Asp
ENST00000673913.1:c.686G>C	ENSP00000501161.1:n.686G>C
ENST00000302118.5:c.1836G>C MANE Select	ENSP00000303208.5:p.Glu612Asp
ENST00000490692.1:n.2382G>C
NM_174936.3:c.1836G>C , LRG_275t1:c.1836G>C	NP_777596.2:p.Glu612Asp
NR_110451.1:n.1443G>C
XM_011541193.1:c.957G>C	XP_011539495.1:p.Glu319Asp
NM_174936.4:c.1836G>C MANE Select	NP_777596.2:p.Glu612Asp
NR_110451.2:n.1443G>C