Canonical Allele Identifier: CA340483566

Gene: PCSK9

Linked Data

• dbSNP Id: rs749049179
• gnomAD v2: 1-55509543-G-T
• gnomAD v4: 1-55043870-G-T
• MyVariant Identifiers: chr1:g.55509543G>T (hg19) ; chr1:g.55043870G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043870G>T , CM000663.2:g.55043870G>T	GRCh38
NC_000001.10:g.55509543G>T , CM000663.1:g.55509543G>T	GRCh37
NC_000001.9:g.55282131G>T	NCBI36
NG_009061.1:g.9324G>T , LRG_275:g.9324G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.235G>T	ENSP00000501161.2:p.Val79Leu
ENST00000710286.1:c.592G>T	ENSP00000518176.1:p.Val198Leu
ENST00000673726.1:c.235G>T	ENSP00000501004.1:p.Val79Leu
ENST00000673903.1:c.-141G>T	ENSP00000501257.1:n.-141G>T
ENST00000302118.5:c.235G>T MANE Select	ENSP00000303208.5:p.Val79Leu
NM_174936.3:c.235G>T , LRG_275t1:c.235G>T	NP_777596.2:p.Val79Leu
NR_110451.1:n.182+3467G>T
NM_174936.4:c.235G>T MANE Select	NP_777596.2:p.Val79Leu
NR_110451.2:n.182+3467G>T