Canonical Allele Identifier: CA417960579

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061547-T-C
• MyVariant Identifiers: chr1:g.55527220T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061547T>C , CM000663.2:g.55061547T>C	GRCh38
NC_000001.10:g.55527220T>C , CM000663.1:g.55527220T>C	GRCh37
NC_000001.9:g.55299808T>C	NCBI36
NG_009061.1:g.27001T>C , LRG_275:g.27001T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*194T>C	ENSP00000501161.2:n.*194T>C
ENST00000710286.1:c.2211T>C	ENSP00000518176.1:p.Pro737=
ENST00000673903.1:c.1479T>C	ENSP00000501257.1:p.Pro493=
ENST00000673913.1:c.704T>C	ENSP00000501161.1:n.704T>C
ENST00000302118.5:c.1854T>C MANE Select	ENSP00000303208.5:p.Pro618=
ENST00000490692.1:n.2400T>C
NM_174936.3:c.1854T>C , LRG_275t1:c.1854T>C	NP_777596.2:p.Pro618=
NR_110451.1:n.1461T>C
XM_011541193.1:c.975T>C	XP_011539495.1:p.Pro325=
NM_174936.4:c.1854T>C MANE Select	NP_777596.2:p.Pro618=
NR_110451.2:n.1461T>C