Canonical Allele Identifier: CA418181140

Gene: PCSK9

Linked Data

• dbSNP Id: rs1158771600
• gnomAD v4: 1-55052751-C-T
• MyVariant Identifiers: chr1:g.55518424C>T (hg19) ; chr1:g.55052751C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55052751C>T , CM000663.2:g.55052751C>T	GRCh38
NC_000001.10:g.55518424C>T , CM000663.1:g.55518424C>T	GRCh37
NC_000001.9:g.55291012C>T	NCBI36
NG_009061.1:g.18205C>T , LRG_275:g.18205C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.759C>T	ENSP00000501161.2:p.Leu253=
ENST00000710286.1:c.1116C>T	ENSP00000518176.1:p.Leu372=
ENST00000673903.1:c.384C>T	ENSP00000501257.1:p.Leu128=
ENST00000302118.5:c.759C>T MANE Select	ENSP00000303208.5:p.Leu253=
ENST00000490692.1:n.1580C>T
NM_174936.3:c.759C>T , LRG_275t1:c.759C>T	NP_777596.2:p.Leu253=
NR_110451.1:n.418C>T
NM_174936.4:c.759C>T MANE Select	NP_777596.2:p.Leu253=
NR_110451.2:n.418C>T