Canonical Allele Identifier: CA340483859

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55509691G>C (hg19) ; chr1:g.55044018G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044018G>C , CM000663.2:g.55044018G>C	GRCh38
NC_000001.10:g.55509691G>C , CM000663.1:g.55509691G>C	GRCh37
NC_000001.9:g.55282279G>C	NCBI36
NG_009061.1:g.9472G>C , LRG_275:g.9472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.383G>C	ENSP00000501161.2:p.Gly128Ala
ENST00000710286.1:c.740G>C	ENSP00000518176.1:p.Gly247Ala
ENST00000673662.1:n.53G>C
ENST00000673726.1:c.383G>C	ENSP00000501004.1:p.Gly128Ala
ENST00000673903.1:c.8G>C	ENSP00000501257.1:p.Gly3Ala
ENST00000302118.5:c.383G>C MANE Select	ENSP00000303208.5:p.Gly128Ala
NM_174936.3:c.383G>C , LRG_275t1:c.383G>C	NP_777596.2:p.Gly128Ala
NR_110451.1:n.182+3615G>C
NM_174936.4:c.383G>C MANE Select	NP_777596.2:p.Gly128Ala
NR_110451.2:n.182+3615G>C