Canonical Allele Identifier: CA22791822

Gene: PCSK9

Linked Data

• dbSNP Id: rs201184195
• gnomAD v4: 1-55039878-C-T
• MyVariant Identifiers: chr1:g.55505551C>T (hg19) ; chr1:g.55039878C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039878C>T , CM000663.2:g.55039878C>T	GRCh38
NC_000001.10:g.55505551C>T , CM000663.1:g.55505551C>T	GRCh37
NC_000001.9:g.55278139C>T	NCBI36
NG_009061.1:g.5332C>T , LRG_275:g.5332C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.41C>T	ENSP00000501161.2:p.Pro14Leu
ENST00000710286.1:c.398C>T	ENSP00000518176.1:p.Pro133Leu
ENST00000673726.1:c.41C>T	ENSP00000501004.1:p.Pro14Leu
ENST00000302118.5:c.41C>T MANE Select	ENSP00000303208.5:p.Pro14Leu
NM_174936.3:c.41C>T , LRG_275t1:c.41C>T	NP_777596.2:p.Pro14Leu
NM_174936.4:c.41C>T MANE Select	NP_777596.2:p.Pro14Leu