Canonical Allele Identifier: CA2574381327
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059694A>T , CM000663.2:g.55059694A>T GRCh38
NC_000001.10:g.55525367A>T , CM000663.1:g.55525367A>T GRCh37
NC_000001.9:g.55297955A>T NCBI36
NG_009061.1:g.25148A>T , LRG_275:g.25148A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1681+31A>T ENSP00000501161.2:n.1681+31A>T
ENST00000710286.1:c.2038+31A>T ENSP00000518176.1:n.2038+31A>T
ENST00000673903.1:c.1306+31A>T ENSP00000501257.1:n.1306+31A>T
ENST00000673913.1:c.421+31A>T ENSP00000501161.1:n.421+31A>T
ENST00000302118.5:c.1681+31A>T MANE Select ENSP00000303208.5:n.1681+31A>T
ENST00000490692.1:n.2227+1047A>T
NM_174936.3:c.1681+31A>T , LRG_275t1:c.1681+31A>T NP_777596.2:n.1681+31A>T
NR_110451.1:n.1288+31A>T
XM_011541193.1:c.802+31A>T XP_011539495.1:n.802+31A>T
NM_174936.4:c.1681+31A>T MANE Select NP_777596.2:n.1681+31A>T
NR_110451.2:n.1288+31A>T