Canonical Allele Identifier: CA340474153

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55518432A>T (hg19) ; chr1:g.55052759A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55052759A>T , CM000663.2:g.55052759A>T	GRCh38
NC_000001.10:g.55518432A>T , CM000663.1:g.55518432A>T	GRCh37
NC_000001.9:g.55291020A>T	NCBI36
NG_009061.1:g.18213A>T , LRG_275:g.18213A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.767A>T	ENSP00000501161.2:p.Gln256Leu
ENST00000710286.1:c.1124A>T	ENSP00000518176.1:p.Gln375Leu
ENST00000673903.1:c.392A>T	ENSP00000501257.1:p.Gln131Leu
ENST00000302118.5:c.767A>T MANE Select	ENSP00000303208.5:p.Gln256Leu
ENST00000490692.1:n.1588A>T
NM_174936.3:c.767A>T , LRG_275t1:c.767A>T	NP_777596.2:p.Gln256Leu
NR_110451.1:n.426A>T
NM_174936.4:c.767A>T MANE Select	NP_777596.2:p.Gln256Leu
NR_110451.2:n.426A>T