Canonical Allele Identifier: CA340474130
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55518427C>A (hg19) chr1:g.55052754C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55052754C>A , CM000663.2:g.55052754C>A GRCh38
NC_000001.10:g.55518427C>A , CM000663.1:g.55518427C>A GRCh37
NC_000001.9:g.55291015C>A NCBI36
NG_009061.1:g.18208C>A , LRG_275:g.18208C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.762C>A ENSP00000501161.2:p.Asn254Lys
ENST00000710286.1:c.1119C>A ENSP00000518176.1:p.Asn373Lys
ENST00000673903.1:c.387C>A ENSP00000501257.1:p.Asn129Lys
ENST00000302118.5:c.762C>A MANE Select ENSP00000303208.5:p.Asn254Lys
ENST00000490692.1:n.1583C>A
NM_174936.3:c.762C>A , LRG_275t1:c.762C>A NP_777596.2:p.Asn254Lys
NR_110451.1:n.421C>A
NM_174936.4:c.762C>A MANE Select NP_777596.2:p.Asn254Lys
NR_110451.2:n.421C>A
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