Canonical Allele Identifier: CA340482786
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs757753730
gnomAD v2: 1-55505616-G-T
gnomAD v3: 1-55039943-G-T
gnomAD v4: 1-55039943-G-T
MyVariant Identifiers: chr1:g.55505616G>T (hg19) chr1:g.55039943G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039943G>T , CM000663.2:g.55039943G>T GRCh38
NC_000001.10:g.55505616G>T , CM000663.1:g.55505616G>T GRCh37
NC_000001.9:g.55278204G>T NCBI36
NG_009061.1:g.5397G>T , LRG_275:g.5397G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.106G>T ENSP00000501161.2:p.Gly36Cys
ENST00000710286.1:c.463G>T ENSP00000518176.1:p.Gly155Cys
ENST00000673726.1:c.106G>T ENSP00000501004.1:p.Gly36Cys
ENST00000302118.5:c.106G>T MANE Select ENSP00000303208.5:p.Gly36Cys
NM_174936.3:c.106G>T , LRG_275t1:c.106G>T NP_777596.2:p.Gly36Cys
NM_174936.4:c.106G>T MANE Select NP_777596.2:p.Gly36Cys
Search 100 bp 5'
Search 100 bp 3'