Canonical Allele Identifier: CA2645840645
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55059371-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059371G>A , CM000663.2:g.55059371G>A GRCh38
NC_000001.10:g.55525044G>A , CM000663.1:g.55525044G>A GRCh37
NC_000001.9:g.55297632G>A NCBI36
NG_009061.1:g.24825G>A , LRG_275:g.24825G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1504-115G>A ENSP00000501161.2:n.1504-115G>A
ENST00000710286.1:c.1861-115G>A ENSP00000518176.1:n.1861-115G>A
ENST00000673903.1:c.1129-115G>A ENSP00000501257.1:n.1129-115G>A
ENST00000673913.1:c.244-115G>A ENSP00000501161.1:n.244-115G>A
ENST00000302118.5:c.1504-115G>A MANE Select ENSP00000303208.5:n.1504-115G>A
ENST00000490692.1:n.2227+724G>A
NM_174936.3:c.1504-115G>A , LRG_275t1:c.1504-115G>A NP_777596.2:n.1504-115G>A
NR_110451.1:n.1111-115G>A
XM_011541193.1:c.625-115G>A XP_011539495.1:n.625-115G>A
NM_174936.4:c.1504-115G>A MANE Select NP_777596.2:n.1504-115G>A
NR_110451.2:n.1111-115G>A