Canonical Allele Identifier: CA417960384
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55525203G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059530G>C , CM000663.2:g.55059530G>C GRCh38
NC_000001.10:g.55525203G>C , CM000663.1:g.55525203G>C GRCh37
NC_000001.9:g.55297791G>C NCBI36
NG_009061.1:g.24984G>C , LRG_275:g.24984G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.1548G>C ENSP00000501161.2:p.Gly516=
ENST00000710286.1:c.1905G>C ENSP00000518176.1:p.Gly635=
ENST00000673903.1:c.1173G>C ENSP00000501257.1:p.Gly391=
ENST00000673913.1:c.288G>C ENSP00000501161.1:p.Gly96=
ENST00000302118.5:c.1548G>C MANE Select ENSP00000303208.5:p.Gly516=
ENST00000490692.1:n.2227+883G>C
NM_174936.3:c.1548G>C , LRG_275t1:c.1548G>C NP_777596.2:p.Gly516=
NR_110451.1:n.1155G>C
XM_011541193.1:c.669G>C XP_011539495.1:p.Gly223=
NM_174936.4:c.1548G>C MANE Select NP_777596.2:p.Gly516=
NR_110451.2:n.1155G>C