Canonical Allele Identifier: CA10672626

Gene: PCSK9

Linked Data

• dbSNP Id: rs630431
• gnomAD v2: 1-55527323-G-A
• gnomAD v3: 1-55061650-G-A
• gnomAD v4: 1-55061650-G-A
• MyVariant Identifiers: chr1:g.55527323G>A (hg19) ; chr1:g.55061650G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061650G>A , CM000663.2:g.55061650G>A	GRCh38
NC_000001.10:g.55527323G>A , CM000663.1:g.55527323G>A	GRCh37
NC_000001.9:g.55299911G>A	NCBI36
NG_009061.1:g.27104G>A , LRG_275:g.27104G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*203+94G>A	ENSP00000501161.2:n.*203+94G>A
ENST00000710286.1:c.2220+94G>A	ENSP00000518176.1:n.2220+94G>A
ENST00000673903.1:c.1488+94G>A	ENSP00000501257.1:n.1488+94G>A
ENST00000673913.1:c.713+94G>A	ENSP00000501161.1:n.713+94G>A
ENST00000302118.5:c.1863+94G>A MANE Select	ENSP00000303208.5:n.1863+94G>A
ENST00000490692.1:n.2409+94G>A
NM_174936.3:c.1863+94G>A , LRG_275t1:c.1863+94G>A	NP_777596.2:n.1863+94G>A
NR_110451.1:n.1470+94G>A
XM_011541193.1:c.984+94G>A	XP_011539495.1:n.984+94G>A
NM_174936.4:c.1863+94G>A MANE Select	NP_777596.2:n.1863+94G>A
NR_110451.2:n.1470+94G>A