Canonical Allele Identifier: CA1167986613
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1644780301
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063688A>C , CM000663.2:g.55063688A>C GRCh38
NC_000001.10:g.55529361A>C , CM000663.1:g.55529361A>C GRCh37
NC_000001.9:g.55301949A>C NCBI36
NG_009061.1:g.29142A>C , LRG_275:g.29142A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*523A>C ENSP00000501161.2:n.*523A>C
ENST00000710286.1:c.*104A>C ENSP00000518176.1:n.*104A>C
ENST00000673903.1:c.*104A>C ENSP00000501257.1:n.*104A>C
ENST00000302118.5:c.*104A>C MANE Select ENSP00000303208.5:n.*104A>C
ENST00000490692.1:n.2729A>C
NM_174936.3:c.*104A>C , LRG_275t1:c.*104A>C NP_777596.2:n.*104A>C
NR_110451.1:n.1790A>C
XM_011541193.1:c.*104A>C XP_011539495.1:n.*104A>C
NM_174936.4:c.*104A>C MANE Select NP_777596.2:n.*104A>C
NR_110451.2:n.1790A>C
Search 100 bp 5'
Search 100 bp 3'