Canonical Allele Identifier: CA340479790

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059532-G-C
• MyVariant Identifiers: chr1:g.55525205G>C (hg19) ; chr1:g.55059532G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059532G>C , CM000663.2:g.55059532G>C	GRCh38
NC_000001.10:g.55525205G>C , CM000663.1:g.55525205G>C	GRCh37
NC_000001.9:g.55297793G>C	NCBI36
NG_009061.1:g.24986G>C , LRG_275:g.24986G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1550G>C	ENSP00000501161.2:p.Gly517Ala
ENST00000710286.1:c.1907G>C	ENSP00000518176.1:p.Gly636Ala
ENST00000673903.1:c.1175G>C	ENSP00000501257.1:p.Gly392Ala
ENST00000673913.1:c.290G>C	ENSP00000501161.1:p.Gly97Ala
ENST00000302118.5:c.1550G>C MANE Select	ENSP00000303208.5:p.Gly517Ala
ENST00000490692.1:n.2227+885G>C
NM_174936.3:c.1550G>C , LRG_275t1:c.1550G>C	NP_777596.2:p.Gly517Ala
NR_110451.1:n.1157G>C
XM_011541193.1:c.671G>C	XP_011539495.1:p.Gly224Ala
NM_174936.4:c.1550G>C MANE Select	NP_777596.2:p.Gly517Ala
NR_110451.2:n.1157G>C