Canonical Allele Identifier: CA1001920569
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs762621316
gnomAD v3: 1-55059400-G-C
gnomAD v4: 1-55059400-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059400G>C , CM000663.2:g.55059400G>C GRCh38
NC_000001.10:g.55525073G>C , CM000663.1:g.55525073G>C GRCh37
NC_000001.9:g.55297661G>C NCBI36
NG_009061.1:g.24854G>C , LRG_275:g.24854G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1504-86G>C ENSP00000501161.2:n.1504-86G>C
ENST00000710286.1:c.1861-86G>C ENSP00000518176.1:n.1861-86G>C
ENST00000673903.1:c.1129-86G>C ENSP00000501257.1:n.1129-86G>C
ENST00000673913.1:c.244-86G>C ENSP00000501161.1:n.244-86G>C
ENST00000302118.5:c.1504-86G>C MANE Select ENSP00000303208.5:n.1504-86G>C
ENST00000490692.1:n.2227+753G>C
NM_174936.3:c.1504-86G>C , LRG_275t1:c.1504-86G>C NP_777596.2:n.1504-86G>C
NR_110451.1:n.1111-86G>C
XM_011541193.1:c.625-86G>C XP_011539495.1:n.625-86G>C
NM_174936.4:c.1504-86G>C MANE Select NP_777596.2:n.1504-86G>C
NR_110451.2:n.1111-86G>C