Canonical Allele Identifier: CA340474157
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55518433A>C (hg19) chr1:g.55052760A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55052760A>C , CM000663.2:g.55052760A>C GRCh38
NC_000001.10:g.55518433A>C , CM000663.1:g.55518433A>C GRCh37
NC_000001.9:g.55291021A>C NCBI36
NG_009061.1:g.18214A>C , LRG_275:g.18214A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.768A>C ENSP00000501161.2:p.Gln256His
ENST00000710286.1:c.1125A>C ENSP00000518176.1:p.Gln375His
ENST00000673903.1:c.393A>C ENSP00000501257.1:p.Gln131His
ENST00000302118.5:c.768A>C MANE Select ENSP00000303208.5:p.Gln256His
ENST00000490692.1:n.1589A>C
NM_174936.3:c.768A>C , LRG_275t1:c.768A>C NP_777596.2:p.Gln256His
NR_110451.1:n.427A>C
NM_174936.4:c.768A>C MANE Select NP_777596.2:p.Gln256His
NR_110451.2:n.427A>C
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