Canonical Allele Identifier: CA340483862
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55044020G>C , CM000663.2:g.55044020G>C GRCh38
NC_000001.10:g.55509693G>C , CM000663.1:g.55509693G>C GRCh37
NC_000001.9:g.55282281G>C NCBI36
NG_009061.1:g.9474G>C , LRG_275:g.9474G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.385G>C ENSP00000501161.2:p.Asp129His
ENST00000710286.1:c.742G>C ENSP00000518176.1:p.Asp248His
ENST00000673662.1:n.55G>C
ENST00000673726.1:c.385G>C ENSP00000501004.1:p.Asp129His
ENST00000673903.1:c.10G>C ENSP00000501257.1:p.Asp4His
ENST00000302118.5:c.385G>C MANE Select ENSP00000303208.5:p.Asp129His
NM_174936.3:c.385G>C , LRG_275t1:c.385G>C NP_777596.2:p.Asp129His
NR_110451.1:n.182+3617G>C
NM_174936.4:c.385G>C MANE Select NP_777596.2:p.Asp129His
NR_110451.2:n.182+3617G>C