Canonical Allele Identifier: CA1142916412
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063836C= , CM000663.2:g.55063836C= GRCh38
NC_000001.10:g.55529509C= , CM000663.1:g.55529509C= GRCh37
NC_000001.9:g.55302097C= NCBI36
NG_009061.1:g.29290C= , LRG_275:g.29290C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*671C= ENSP00000501161.2:n.*671C=
ENST00000710286.1:c.*252C= ENSP00000518176.1:n.*252C=
ENST00000673903.1:c.*252C= ENSP00000501257.1:n.*252C=
ENST00000302118.5:c.*252C= MANE Select ENSP00000303208.5:n.*252C=
ENST00000490692.1:n.2877C=
NM_174936.3:c.*252C= , LRG_275t1:c.*252C= NP_777596.2:n.*252C=
NR_110451.1:n.1938C=
XM_011541193.1:c.*252C= XP_011539495.1:n.*252C=
NM_174936.4:c.*252C= MANE Select NP_777596.2:n.*252C=
NR_110451.2:n.1938C=