Canonical Allele Identifier: CA340474163

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55518434G>T (hg19) ; chr1:g.55052761G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.769G>T	ENSP00000501161.2:p.Gly257Trp
ENST00000710286.1:c.1126G>T	ENSP00000518176.1:p.Gly376Trp
ENST00000673903.1:c.394G>T	ENSP00000501257.1:p.Gly132Trp
ENST00000302118.5:c.769G>T MANE Select	ENSP00000303208.5:p.Gly257Trp
ENST00000490692.1:n.1590G>T
NM_174936.3:c.769G>T , LRG_275t1:c.769G>T	NP_777596.2:p.Gly257Trp
NR_110451.1:n.428G>T
NM_174936.4:c.769G>T MANE Select	NP_777596.2:p.Gly257Trp
NR_110451.2:n.428G>T