Canonical Allele Identifier: CA340483641
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043906T>C , CM000663.2:g.55043906T>C GRCh38
NC_000001.10:g.55509579T>C , CM000663.1:g.55509579T>C GRCh37
NC_000001.9:g.55282167T>C NCBI36
NG_009061.1:g.9360T>C , LRG_275:g.9360T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.271T>C ENSP00000501161.2:p.Ser91Pro
ENST00000710286.1:c.628T>C ENSP00000518176.1:p.Ser210Pro
ENST00000673726.1:c.271T>C ENSP00000501004.1:p.Ser91Pro
ENST00000673903.1:c.-105T>C ENSP00000501257.1:n.-105T>C
ENST00000302118.5:c.271T>C MANE Select ENSP00000303208.5:p.Ser91Pro
NM_174936.3:c.271T>C , LRG_275t1:c.271T>C NP_777596.2:p.Ser91Pro
NR_110451.1:n.182+3503T>C
NM_174936.4:c.271T>C MANE Select NP_777596.2:p.Ser91Pro
NR_110451.2:n.182+3503T>C