Canonical Allele Identifier: CA340483848

Gene: PCSK9

Linked Data

• dbSNP Id: rs749928920
• COSMIC: COSM1667565
• MyVariant Identifiers: chr1:g.55509686G>C (hg19) ; chr1:g.55044013G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044013G>C , CM000663.2:g.55044013G>C	GRCh38
NC_000001.10:g.55509686G>C , CM000663.1:g.55509686G>C	GRCh37
NC_000001.9:g.55282274G>C	NCBI36
NG_009061.1:g.9467G>C , LRG_275:g.9467G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.378G>C	ENSP00000501161.2:p.Met126Ile
ENST00000710286.1:c.735G>C	ENSP00000518176.1:p.Met245Ile
ENST00000673662.1:n.48G>C
ENST00000673726.1:c.378G>C	ENSP00000501004.1:p.Met126Ile
ENST00000673903.1:c.3G>C	ENSP00000501257.1:p.Met1Ile
ENST00000302118.5:c.378G>C MANE Select	ENSP00000303208.5:p.Met126Ile
NM_174936.3:c.378G>C , LRG_275t1:c.378G>C	NP_777596.2:p.Met126Ile
NR_110451.1:n.182+3610G>C
NM_174936.4:c.378G>C MANE Select	NP_777596.2:p.Met126Ile
NR_110451.2:n.182+3610G>C