Canonical Allele Identifier: CA522961362

Gene: PCSK9

Linked Data

• dbSNP Id: rs1322263364
• gnomAD v2: 1-55525060-G-C
• gnomAD v3: 1-55059387-G-C
• gnomAD v4: 1-55059387-G-C
• MyVariant Identifiers: chr1:g.55525060G>C (hg19) ; chr1:g.55059387G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059387G>C , CM000663.2:g.55059387G>C	GRCh38
NC_000001.10:g.55525060G>C , CM000663.1:g.55525060G>C	GRCh37
NC_000001.9:g.55297648G>C	NCBI36
NG_009061.1:g.24841G>C , LRG_275:g.24841G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.1504-99G>C	ENSP00000501161.2:n.1504-99G>C
ENST00000710286.1:c.1861-99G>C	ENSP00000518176.1:n.1861-99G>C
ENST00000673903.1:c.1129-99G>C	ENSP00000501257.1:n.1129-99G>C
ENST00000673913.1:c.244-99G>C	ENSP00000501161.1:n.244-99G>C
ENST00000302118.5:c.1504-99G>C MANE Select	ENSP00000303208.5:n.1504-99G>C
ENST00000490692.1:n.2227+740G>C
NM_174936.3:c.1504-99G>C , LRG_275t1:c.1504-99G>C	NP_777596.2:n.1504-99G>C
NR_110451.1:n.1111-99G>C
XM_011541193.1:c.625-99G>C	XP_011539495.1:n.625-99G>C
NM_174936.4:c.1504-99G>C MANE Select	NP_777596.2:n.1504-99G>C
NR_110451.2:n.1111-99G>C