Canonical Allele Identifier: CA1167986470
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1644776808

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063355T>C , CM000663.2:g.55063355T>C GRCh38
NC_000001.10:g.55529028T>C , CM000663.1:g.55529028T>C GRCh37
NC_000001.9:g.55301616T>C NCBI36
NG_009061.1:g.28809T>C , LRG_275:g.28809T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*204-14T>C ENSP00000501161.2:n.*204-14T>C
ENST00000710286.1:c.2221-14T>C ENSP00000518176.1:n.2221-14T>C
ENST00000673903.1:c.1489-14T>C ENSP00000501257.1:n.1489-14T>C
ENST00000673913.1:c.714-14T>C ENSP00000501161.1:n.714-14T>C
ENST00000302118.5:c.1864-14T>C MANE Select ENSP00000303208.5:n.1864-14T>C
ENST00000490692.1:n.2410-14T>C
NM_174936.3:c.1864-14T>C , LRG_275t1:c.1864-14T>C NP_777596.2:n.1864-14T>C
NR_110451.1:n.1471-14T>C
XM_011541193.1:c.985-14T>C XP_011539495.1:n.985-14T>C
NM_174936.4:c.1864-14T>C MANE Select NP_777596.2:n.1864-14T>C
NR_110451.2:n.1471-14T>C