Canonical Allele Identifier: CA340480396

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061494-T-A
• MyVariant Identifiers: chr1:g.55527167T>A (hg19) ; chr1:g.55061494T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061494T>A , CM000663.2:g.55061494T>A	GRCh38
NC_000001.10:g.55527167T>A , CM000663.1:g.55527167T>A	GRCh37
NC_000001.9:g.55299755T>A	NCBI36
NG_009061.1:g.26948T>A , LRG_275:g.26948T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*141T>A	ENSP00000501161.2:n.*141T>A
ENST00000710286.1:c.2158T>A	ENSP00000518176.1:p.Cys720Ser
ENST00000673903.1:c.1426T>A	ENSP00000501257.1:p.Cys476Ser
ENST00000673913.1:c.651T>A	ENSP00000501161.1:n.651T>A
ENST00000302118.5:c.1801T>A MANE Select	ENSP00000303208.5:p.Cys601Ser
ENST00000490692.1:n.2347T>A
NM_174936.3:c.1801T>A , LRG_275t1:c.1801T>A	NP_777596.2:p.Cys601Ser
NR_110451.1:n.1408T>A
XM_011541193.1:c.922T>A	XP_011539495.1:p.Cys308Ser
NM_174936.4:c.1801T>A MANE Select	NP_777596.2:p.Cys601Ser
NR_110451.2:n.1408T>A