Canonical Allele Identifier: CA340482583
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1209186979
gnomAD v2: 1-55505512-T-C
gnomAD v4: 1-55039839-T-C
MyVariant Identifiers: chr1:g.55505512T>C (hg19) chr1:g.55039839T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039839T>C , CM000663.2:g.55039839T>C GRCh38
NC_000001.10:g.55505512T>C , CM000663.1:g.55505512T>C GRCh37
NC_000001.9:g.55278100T>C NCBI36
NG_009061.1:g.5293T>C , LRG_275:g.5293T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.2T>C ENSP00000501161.2:p.Met1Thr
ENST00000710286.1:c.359T>C ENSP00000518176.1:p.Met120Thr
ENST00000673726.1:c.2T>C ENSP00000501004.1:p.Met1Thr
ENST00000302118.5:c.2T>C MANE Select ENSP00000303208.5:p.Met1Thr
NM_174936.3:c.2T>C , LRG_275t1:c.2T>C NP_777596.2:p.Met1Thr
NM_174936.4:c.2T>C MANE Select NP_777596.2:p.Met1Thr
Search 100 bp 5'
Search 100 bp 3'