Canonical Allele Identifier: CA340483558

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55509540T>C (hg19) ; chr1:g.55043867T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043867T>C , CM000663.2:g.55043867T>C	GRCh38
NC_000001.10:g.55509540T>C , CM000663.1:g.55509540T>C	GRCh37
NC_000001.9:g.55282128T>C	NCBI36
NG_009061.1:g.9321T>C , LRG_275:g.9321T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.232T>C	ENSP00000501161.2:p.Tyr78His
ENST00000710286.1:c.589T>C	ENSP00000518176.1:p.Tyr197His
ENST00000673726.1:c.232T>C	ENSP00000501004.1:p.Tyr78His
ENST00000673903.1:c.-144T>C	ENSP00000501257.1:n.-144T>C
ENST00000302118.5:c.232T>C MANE Select	ENSP00000303208.5:p.Tyr78His
NM_174936.3:c.232T>C , LRG_275t1:c.232T>C	NP_777596.2:p.Tyr78His
NR_110451.1:n.182+3464T>C
NM_174936.4:c.232T>C MANE Select	NP_777596.2:p.Tyr78His
NR_110451.2:n.182+3464T>C