Canonical Allele Identifier: CA340480110
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55059654-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059654G>C , CM000663.2:g.55059654G>C GRCh38
NC_000001.10:g.55525327G>C , CM000663.1:g.55525327G>C GRCh37
NC_000001.9:g.55297915G>C NCBI36
NG_009061.1:g.25108G>C , LRG_275:g.25108G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1672G>C ENSP00000501161.2:p.Val558Leu
ENST00000710286.1:c.2029G>C ENSP00000518176.1:p.Val677Leu
ENST00000673903.1:c.1297G>C ENSP00000501257.1:p.Val433Leu
ENST00000673913.1:c.412G>C ENSP00000501161.1:p.Val138Leu
ENST00000302118.5:c.1672G>C MANE Select ENSP00000303208.5:p.Val558Leu
ENST00000490692.1:n.2227+1007G>C
NM_174936.3:c.1672G>C , LRG_275t1:c.1672G>C NP_777596.2:p.Val558Leu
NR_110451.1:n.1279G>C
XM_011541193.1:c.793G>C XP_011539495.1:p.Val265Leu
NM_174936.4:c.1672G>C MANE Select NP_777596.2:p.Val558Leu
NR_110451.2:n.1279G>C