Canonical Allele Identifier: CA340483840

Gene: PCSK9

Linked Data

• dbSNP Id: rs1345977085
• gnomAD v2: 1-55509682-A-T
• MyVariant Identifiers: chr1:g.55509682A>T (hg19) ; chr1:g.55044009A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044009A>T , CM000663.2:g.55044009A>T	GRCh38
NC_000001.10:g.55509682A>T , CM000663.1:g.55509682A>T	GRCh37
NC_000001.9:g.55282270A>T	NCBI36
NG_009061.1:g.9463A>T , LRG_275:g.9463A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.374A>T	ENSP00000501161.2:p.Lys125Met
ENST00000710286.1:c.731A>T	ENSP00000518176.1:p.Lys244Met
ENST00000673662.1:n.44A>T
ENST00000673726.1:c.374A>T	ENSP00000501004.1:p.Lys125Met
ENST00000673903.1:c.-2A>T	ENSP00000501257.1:n.-2A>T
ENST00000302118.5:c.374A>T MANE Select	ENSP00000303208.5:p.Lys125Met
NM_174936.3:c.374A>T , LRG_275t1:c.374A>T	NP_777596.2:p.Lys125Met
NR_110451.1:n.182+3606A>T
NM_174936.4:c.374A>T MANE Select	NP_777596.2:p.Lys125Met
NR_110451.2:n.182+3606A>T