Canonical Allele Identifier: CA418181159

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644685181
• gnomAD v4: 1-55052757-C-T
• MyVariant Identifiers: chr1:g.55518430C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55052757C>T , CM000663.2:g.55052757C>T	GRCh38
NC_000001.10:g.55518430C>T , CM000663.1:g.55518430C>T	GRCh37
NC_000001.9:g.55291018C>T	NCBI36
NG_009061.1:g.18211C>T , LRG_275:g.18211C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.765C>T	ENSP00000501161.2:p.Cys255=
ENST00000710286.1:c.1122C>T	ENSP00000518176.1:p.Cys374=
ENST00000673903.1:c.390C>T	ENSP00000501257.1:p.Cys130=
ENST00000302118.5:c.765C>T MANE Select	ENSP00000303208.5:p.Cys255=
ENST00000490692.1:n.1586C>T
NM_174936.3:c.765C>T , LRG_275t1:c.765C>T	NP_777596.2:p.Cys255=
NR_110451.1:n.424C>T
NM_174936.4:c.765C>T MANE Select	NP_777596.2:p.Cys255=
NR_110451.2:n.424C>T