Canonical Allele Identifier: CA340480449

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 3071400
• ClinVar RCV Id: RCV004015894
• MyVariant Identifiers: chr1:g.55527191A>C (hg19) ; chr1:g.55061518A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061518A>C , CM000663.2:g.55061518A>C	GRCh38
NC_000001.10:g.55527191A>C , CM000663.1:g.55527191A>C	GRCh37
NC_000001.9:g.55299779A>C	NCBI36
NG_009061.1:g.26972A>C , LRG_275:g.26972A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*165A>C	ENSP00000501161.2:n.*165A>C
ENST00000710286.1:c.2182A>C	ENSP00000518176.1:p.Lys728Gln
ENST00000673903.1:c.1450A>C	ENSP00000501257.1:p.Lys484Gln
ENST00000673913.1:c.675A>C	ENSP00000501161.1:n.675A>C
ENST00000302118.5:c.1825A>C MANE Select	ENSP00000303208.5:p.Lys609Gln
ENST00000490692.1:n.2371A>C
NM_174936.3:c.1825A>C , LRG_275t1:c.1825A>C	NP_777596.2:p.Lys609Gln
NR_110451.1:n.1432A>C
XM_011541193.1:c.946A>C	XP_011539495.1:p.Lys316Gln
NM_174936.4:c.1825A>C MANE Select	NP_777596.2:p.Lys609Gln
NR_110451.2:n.1432A>C