Canonical Allele Identifier: CA340474169

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55518435G>T (hg19) ; chr1:g.55052762G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55052762G>T , CM000663.2:g.55052762G>T	GRCh38
NC_000001.10:g.55518435G>T , CM000663.1:g.55518435G>T	GRCh37
NC_000001.9:g.55291023G>T	NCBI36
NG_009061.1:g.18216G>T , LRG_275:g.18216G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.770G>T	ENSP00000501161.2:p.Gly257Val
ENST00000710286.1:c.1127G>T	ENSP00000518176.1:p.Gly376Val
ENST00000673903.1:c.395G>T	ENSP00000501257.1:p.Gly132Val
ENST00000302118.5:c.770G>T MANE Select	ENSP00000303208.5:p.Gly257Val
ENST00000490692.1:n.1591G>T
NM_174936.3:c.770G>T , LRG_275t1:c.770G>T	NP_777596.2:p.Gly257Val
NR_110451.1:n.429G>T
NM_174936.4:c.770G>T MANE Select	NP_777596.2:p.Gly257Val
NR_110451.2:n.429G>T