Canonical Allele Identifier: CA340474137
Gene: PCSK9 HGNC NCBI

Linked Data

COSMIC: COSM6429966
MyVariant Identifiers: chr1:g.55518429G>A (hg19) chr1:g.55052756G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55052756G>A , CM000663.2:g.55052756G>A GRCh38
NC_000001.10:g.55518429G>A , CM000663.1:g.55518429G>A GRCh37
NC_000001.9:g.55291017G>A NCBI36
NG_009061.1:g.18210G>A , LRG_275:g.18210G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.764G>A ENSP00000501161.2:p.Cys255Tyr
ENST00000710286.1:c.1121G>A ENSP00000518176.1:p.Cys374Tyr
ENST00000673903.1:c.389G>A ENSP00000501257.1:p.Cys130Tyr
ENST00000302118.5:c.764G>A MANE Select ENSP00000303208.5:p.Cys255Tyr
ENST00000490692.1:n.1585G>A
NM_174936.3:c.764G>A , LRG_275t1:c.764G>A NP_777596.2:p.Cys255Tyr
NR_110451.1:n.423G>A
NM_174936.4:c.764G>A MANE Select NP_777596.2:p.Cys255Tyr
NR_110451.2:n.423G>A
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