Canonical Allele Identifier: CA737004132

Gene: PCSK9

Linked Data

• dbSNP Id: rs1160547614
• gnomAD v4: 1-55059770-T-A
• MyVariant Identifiers: chr1:g.55525443T>A (hg19) ; chr1:g.55059770T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059770T>A , CM000663.2:g.55059770T>A	GRCh38
NC_000001.10:g.55525443T>A , CM000663.1:g.55525443T>A	GRCh37
NC_000001.9:g.55298031T>A	NCBI36
NG_009061.1:g.25224T>A , LRG_275:g.25224T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+107T>A	ENSP00000501161.2:n.1681+107T>A
ENST00000710286.1:c.2038+107T>A	ENSP00000518176.1:n.2038+107T>A
ENST00000673903.1:c.1306+107T>A	ENSP00000501257.1:n.1306+107T>A
ENST00000673913.1:c.421+107T>A	ENSP00000501161.1:n.421+107T>A
ENST00000302118.5:c.1681+107T>A MANE Select	ENSP00000303208.5:n.1681+107T>A
ENST00000490692.1:n.2227+1123T>A
NM_174936.3:c.1681+107T>A , LRG_275t1:c.1681+107T>A	NP_777596.2:n.1681+107T>A
NR_110451.1:n.1288+107T>A
XM_011541193.1:c.802+107T>A	XP_011539495.1:n.802+107T>A
NM_174936.4:c.1681+107T>A MANE Select	NP_777596.2:n.1681+107T>A
NR_110451.2:n.1288+107T>A