Canonical Allele Identifier: CA340480477

Gene: PCSK9

Linked Data

• dbSNP Id: rs761390546
• gnomAD v2: 1-55527202-G-T
• gnomAD v4: 1-55061529-G-T
• MyVariant Identifiers: chr1:g.55527202G>T (hg19) ; chr1:g.55061529G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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