Canonical Allele Identifier: CA340474159
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55052761-G-A
MyVariant Identifiers: chr1:g.55518434G>A (hg19) chr1:g.55052761G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55052761G>A , CM000663.2:g.55052761G>A GRCh38
NC_000001.10:g.55518434G>A , CM000663.1:g.55518434G>A GRCh37
NC_000001.9:g.55291022G>A NCBI36
NG_009061.1:g.18215G>A , LRG_275:g.18215G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.769G>A ENSP00000501161.2:p.Gly257Arg
ENST00000710286.1:c.1126G>A ENSP00000518176.1:p.Gly376Arg
ENST00000673903.1:c.394G>A ENSP00000501257.1:p.Gly132Arg
ENST00000302118.5:c.769G>A MANE Select ENSP00000303208.5:p.Gly257Arg
ENST00000490692.1:n.1590G>A
NM_174936.3:c.769G>A , LRG_275t1:c.769G>A NP_777596.2:p.Gly257Arg
NR_110451.1:n.428G>A
NM_174936.4:c.769G>A MANE Select NP_777596.2:p.Gly257Arg
NR_110451.2:n.428G>A
Search 100 bp 5'
Search 100 bp 3'