Canonical Allele Identifier: CA418180810
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55517976T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55052303T>C , CM000663.2:g.55052303T>C GRCh38
NC_000001.10:g.55517976T>C , CM000663.1:g.55517976T>C GRCh37
NC_000001.9:g.55290564T>C NCBI36
NG_009061.1:g.17757T>C , LRG_275:g.17757T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.549T>C ENSP00000501161.2:p.Tyr183=
ENST00000710286.1:c.906T>C ENSP00000518176.1:p.Tyr302=
ENST00000673726.1:c.*45T>C ENSP00000501004.1:n.*45T>C
ENST00000673903.1:c.174T>C ENSP00000501257.1:p.Tyr58=
ENST00000302118.5:c.549T>C MANE Select ENSP00000303208.5:p.Tyr183=
ENST00000490692.1:n.1370T>C
NM_174936.3:c.549T>C , LRG_275t1:c.549T>C NP_777596.2:p.Tyr183=
NR_110451.1:n.208T>C
NM_174936.4:c.549T>C MANE Select NP_777596.2:p.Tyr183=
NR_110451.2:n.208T>C
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