Canonical Allele Identifier: CA340474142

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55518430C>G (hg19) ; chr1:g.55052757C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55052757C>G , CM000663.2:g.55052757C>G	GRCh38
NC_000001.10:g.55518430C>G , CM000663.1:g.55518430C>G	GRCh37
NC_000001.9:g.55291018C>G	NCBI36
NG_009061.1:g.18211C>G , LRG_275:g.18211C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.765C>G	ENSP00000501161.2:p.Cys255Trp
ENST00000710286.1:c.1122C>G	ENSP00000518176.1:p.Cys374Trp
ENST00000673903.1:c.390C>G	ENSP00000501257.1:p.Cys130Trp
ENST00000302118.5:c.765C>G MANE Select	ENSP00000303208.5:p.Cys255Trp
ENST00000490692.1:n.1586C>G
NM_174936.3:c.765C>G , LRG_275t1:c.765C>G	NP_777596.2:p.Cys255Trp
NR_110451.1:n.424C>G
NM_174936.4:c.765C>G MANE Select	NP_777596.2:p.Cys255Trp
NR_110451.2:n.424C>G