Canonical Allele Identifier: CA417957571

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 3075526
• ClinVar RCV Id: RCV004017044
• gnomAD v4: 1-55044002-C-T
• MyVariant Identifiers: chr1:g.55509675C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044002C>T , CM000663.2:g.55044002C>T	GRCh38
NC_000001.10:g.55509675C>T , CM000663.1:g.55509675C>T	GRCh37
NC_000001.9:g.55282263C>T	NCBI36
NG_009061.1:g.9456C>T , LRG_275:g.9456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.367C>T	ENSP00000501161.2:p.Leu123=
ENST00000710286.1:c.724C>T	ENSP00000518176.1:p.Leu242=
ENST00000673662.1:n.37C>T
ENST00000673726.1:c.367C>T	ENSP00000501004.1:p.Leu123=
ENST00000673903.1:c.-9C>T	ENSP00000501257.1:n.-9C>T
ENST00000302118.5:c.367C>T MANE Select	ENSP00000303208.5:p.Leu123=
NM_174936.3:c.367C>T , LRG_275t1:c.367C>T	NP_777596.2:p.Leu123=
NR_110451.1:n.182+3599C>T
NM_174936.4:c.367C>T MANE Select	NP_777596.2:p.Leu123=
NR_110451.2:n.182+3599C>T