Canonical Allele Identifier: CA417957550

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55043974-T-C
• MyVariant Identifiers: chr1:g.55509647T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043974T>C , CM000663.2:g.55043974T>C	GRCh38
NC_000001.10:g.55509647T>C , CM000663.1:g.55509647T>C	GRCh37
NC_000001.9:g.55282235T>C	NCBI36
NG_009061.1:g.9428T>C , LRG_275:g.9428T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.339T>C	ENSP00000501161.2:p.His113=
ENST00000710286.1:c.696T>C	ENSP00000518176.1:p.His232=
ENST00000673662.1:n.9T>C
ENST00000673726.1:c.339T>C	ENSP00000501004.1:p.His113=
ENST00000673903.1:c.-37T>C	ENSP00000501257.1:n.-37T>C
ENST00000302118.5:c.339T>C MANE Select	ENSP00000303208.5:p.His113=
NM_174936.3:c.339T>C , LRG_275t1:c.339T>C	NP_777596.2:p.His113=
NR_110451.1:n.182+3571T>C
NM_174936.4:c.339T>C MANE Select	NP_777596.2:p.His113=
NR_110451.2:n.182+3571T>C