Canonical Allele Identifier: CA340483547

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55509534G>C (hg19) ; chr1:g.55043861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043861G>C , CM000663.2:g.55043861G>C	GRCh38
NC_000001.10:g.55509534G>C , CM000663.1:g.55509534G>C	GRCh37
NC_000001.9:g.55282122G>C	NCBI36
NG_009061.1:g.9315G>C , LRG_275:g.9315G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.226G>C	ENSP00000501161.2:p.Gly76Arg
ENST00000710286.1:c.583G>C	ENSP00000518176.1:p.Gly195Arg
ENST00000673726.1:c.226G>C	ENSP00000501004.1:p.Gly76Arg
ENST00000673903.1:c.-150G>C	ENSP00000501257.1:n.-150G>C
ENST00000302118.5:c.226G>C MANE Select	ENSP00000303208.5:p.Gly76Arg
NM_174936.3:c.226G>C , LRG_275t1:c.226G>C	NP_777596.2:p.Gly76Arg
NR_110451.1:n.182+3458G>C
NM_174936.4:c.226G>C MANE Select	NP_777596.2:p.Gly76Arg
NR_110451.2:n.182+3458G>C