Canonical Allele Identifier: CA340474161
Gene: PCSK9 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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