Canonical Allele Identifier: CA340474114
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55518423T>A (hg19) chr1:g.55052750T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55052750T>A , CM000663.2:g.55052750T>A GRCh38
NC_000001.10:g.55518423T>A , CM000663.1:g.55518423T>A GRCh37
NC_000001.9:g.55291011T>A NCBI36
NG_009061.1:g.18204T>A , LRG_275:g.18204T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.758T>A ENSP00000501161.2:p.Leu253His
ENST00000710286.1:c.1115T>A ENSP00000518176.1:p.Leu372His
ENST00000673903.1:c.383T>A ENSP00000501257.1:p.Leu128His
ENST00000302118.5:c.758T>A MANE Select ENSP00000303208.5:p.Leu253His
ENST00000490692.1:n.1579T>A
NM_174936.3:c.758T>A , LRG_275t1:c.758T>A NP_777596.2:p.Leu253His
NR_110451.1:n.417T>A
NM_174936.4:c.758T>A MANE Select NP_777596.2:p.Leu253His
NR_110451.2:n.417T>A
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