Canonical Allele Identifier: CA340479888

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059557-G-C
• MyVariant Identifiers: chr1:g.55525230G>C (hg19) ; chr1:g.55059557G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059557G>C , CM000663.2:g.55059557G>C	GRCh38
NC_000001.10:g.55525230G>C , CM000663.1:g.55525230G>C	GRCh37
NC_000001.9:g.55297818G>C	NCBI36
NG_009061.1:g.25011G>C , LRG_275:g.25011G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1575G>C	ENSP00000501161.2:p.Arg525Ser
ENST00000710286.1:c.1932G>C	ENSP00000518176.1:p.Arg644Ser
ENST00000673903.1:c.1200G>C	ENSP00000501257.1:p.Arg400Ser
ENST00000673913.1:c.315G>C	ENSP00000501161.1:p.Arg105Ser
ENST00000302118.5:c.1575G>C MANE Select	ENSP00000303208.5:p.Arg525Ser
ENST00000490692.1:n.2227+910G>C
NM_174936.3:c.1575G>C , LRG_275t1:c.1575G>C	NP_777596.2:p.Arg525Ser
NR_110451.1:n.1182G>C
XM_011541193.1:c.696G>C	XP_011539495.1:p.Arg232Ser
NM_174936.4:c.1575G>C MANE Select	NP_777596.2:p.Arg525Ser
NR_110451.2:n.1182G>C