Canonical Allele Identifier: CA040868

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 440711
• ClinVar RCV Id: RCV000508916 ; RCV000539746 ; RCV000786182 ; RCV001182723 ; RCV001823731 ; RCV002420289
• dbSNP Id: rs569379713
• ExAC: 1:55509520 C / T
• gnomAD v2: 1-55509520-C-T
• gnomAD v3: 1-55043847-C-T
• gnomAD v4: 1-55043847-C-T
• MyVariant Identifiers: chr1:g.55509520C>T (hg19) ; chr1:g.55043847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043847C>T , CM000663.2:g.55043847C>T	GRCh38
NC_000001.10:g.55509520C>T , CM000663.1:g.55509520C>T	GRCh37
NC_000001.9:g.55282108C>T	NCBI36
NG_009061.1:g.9301C>T , LRG_275:g.9301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.212C>T	ENSP00000501161.2:p.Pro71Leu
ENST00000710286.1:c.569C>T	ENSP00000518176.1:p.Pro190Leu
ENST00000673726.1:c.212C>T	ENSP00000501004.1:p.Pro71Leu
ENST00000673903.1:c.-164C>T	ENSP00000501257.1:n.-164C>T
ENST00000302118.5:c.212C>T MANE Select	ENSP00000303208.5:p.Pro71Leu
NM_174936.3:c.212C>T , LRG_275t1:c.212C>T	NP_777596.2:p.Pro71Leu
NR_110451.1:n.182+3444C>T
NM_174936.4:c.212C>T MANE Select	NP_777596.2:p.Pro71Leu
NR_110451.2:n.182+3444C>T