Canonical Allele Identifier: CA737007266

Gene: PCSK9

Linked Data

• dbSNP Id: rs1404765851
• gnomAD v3: 1-55063868-G-C
• gnomAD v4: 1-55063868-G-C
• MyVariant Identifiers: chr1:g.55529541G>C (hg19) ; chr1:g.55063868G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063868G>C , CM000663.2:g.55063868G>C	GRCh38
NC_000001.10:g.55529541G>C , CM000663.1:g.55529541G>C	GRCh37
NC_000001.9:g.55302129G>C	NCBI36
NG_009061.1:g.29322G>C , LRG_275:g.29322G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*703G>C	ENSP00000501161.2:n.*703G>C
ENST00000710286.1:c.*284G>C	ENSP00000518176.1:n.*284G>C
ENST00000673903.1:c.*284G>C	ENSP00000501257.1:n.*284G>C
ENST00000302118.5:c.*284G>C MANE Select	ENSP00000303208.5:n.*284G>C
ENST00000490692.1:n.2909G>C
NM_174936.3:c.*284G>C , LRG_275t1:c.*284G>C	NP_777596.2:n.*284G>C
NR_110451.1:n.1970G>C
XM_011541193.1:c.*284G>C	XP_011539495.1:n.*284G>C
NM_174936.4:c.*284G>C MANE Select	NP_777596.2:n.*284G>C
NR_110451.2:n.1970G>C