Canonical Allele Identifier: CA340480104
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059652A>C , CM000663.2:g.55059652A>C GRCh38
NC_000001.10:g.55525325A>C , CM000663.1:g.55525325A>C GRCh37
NC_000001.9:g.55297913A>C NCBI36
NG_009061.1:g.25106A>C , LRG_275:g.25106A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1670A>C ENSP00000501161.2:p.His557Pro
ENST00000710286.1:c.2027A>C ENSP00000518176.1:p.His676Pro
ENST00000673903.1:c.1295A>C ENSP00000501257.1:p.His432Pro
ENST00000673913.1:c.410A>C ENSP00000501161.1:p.His137Pro
ENST00000302118.5:c.1670A>C MANE Select ENSP00000303208.5:p.His557Pro
ENST00000490692.1:n.2227+1005A>C
NM_174936.3:c.1670A>C , LRG_275t1:c.1670A>C NP_777596.2:p.His557Pro
NR_110451.1:n.1277A>C
XM_011541193.1:c.791A>C XP_011539495.1:p.His264Pro
NM_174936.4:c.1670A>C MANE Select NP_777596.2:p.His557Pro
NR_110451.2:n.1277A>C