Canonical Allele Identifier: CA22760853

Gene: PCSK9

Linked Data

• dbSNP Id: rs950526215
• gnomAD v2: 1-55518802-C-T
• gnomAD v3: 1-55053129-C-T
• gnomAD v4: 1-55053129-C-T
• MyVariant Identifiers: chr1:g.55518802C>T (hg19) ; chr1:g.55053129C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55053129C>T , CM000663.2:g.55053129C>T	GRCh38
NC_000001.10:g.55518802C>T , CM000663.1:g.55518802C>T	GRCh37
NC_000001.9:g.55291390C>T	NCBI36
NG_009061.1:g.18583C>T , LRG_275:g.18583C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.799+338C>T	ENSP00000501161.2:n.799+338C>T
ENST00000710286.1:c.1156+338C>T	ENSP00000518176.1:n.1156+338C>T
ENST00000673903.1:c.424+338C>T	ENSP00000501257.1:n.424+338C>T
ENST00000302118.5:c.799+338C>T MANE Select	ENSP00000303208.5:n.799+338C>T
ENST00000490692.1:n.1620+338C>T
NM_174936.3:c.799+338C>T , LRG_275t1:c.799+338C>T	NP_777596.2:n.799+338C>T
NR_110451.1:n.458+338C>T
NM_174936.4:c.799+338C>T MANE Select	NP_777596.2:n.799+338C>T
NR_110451.2:n.458+338C>T