Canonical Allele Identifier: CA736998004
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1274349995
gnomAD v3: 1-55053108-T-C
gnomAD v4: 1-55053108-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55053108T>C , CM000663.2:g.55053108T>C GRCh38
NC_000001.10:g.55518781T>C , CM000663.1:g.55518781T>C GRCh37
NC_000001.9:g.55291369T>C NCBI36
NG_009061.1:g.18562T>C , LRG_275:g.18562T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.799+317T>C ENSP00000501161.2:n.799+317T>C
ENST00000710286.1:c.1156+317T>C ENSP00000518176.1:n.1156+317T>C
ENST00000673903.1:c.424+317T>C ENSP00000501257.1:n.424+317T>C
ENST00000302118.5:c.799+317T>C MANE Select ENSP00000303208.5:n.799+317T>C
ENST00000490692.1:n.1620+317T>C
NM_174936.3:c.799+317T>C , LRG_275t1:c.799+317T>C NP_777596.2:n.799+317T>C
NR_110451.1:n.458+317T>C
NM_174936.4:c.799+317T>C MANE Select NP_777596.2:n.799+317T>C
NR_110451.2:n.458+317T>C