Canonical Allele Identifier: CA16609712

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058538C>T , CM000663.2:g.55058538C>T	GRCh38
NC_000001.10:g.55524211C>T , CM000663.1:g.55524211C>T	GRCh37
NC_000001.9:g.55296799C>T	NCBI36
NG_009061.1:g.23992C>T , LRG_275:g.23992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1394C>T	ENSP00000501161.2:p.Ser465Leu
ENST00000710286.1:c.1751C>T	ENSP00000518176.1:p.Ser584Leu
ENST00000673903.1:c.1019C>T	ENSP00000501257.1:p.Ser340Leu
ENST00000673913.1:c.134C>T	ENSP00000501161.1:p.Ser45Leu
ENST00000302118.5:c.1394C>T MANE Select	ENSP00000303208.5:p.Ser465Leu
ENST00000490692.1:n.2118C>T
NM_174936.3:c.1394C>T , LRG_275t1:c.1394C>T	NP_777596.2:p.Ser465Leu
NR_110451.1:n.1001C>T
XM_011541193.1:c.515C>T	XP_011539495.1:p.Ser172Leu
NM_174936.4:c.1394C>T MANE Select	NP_777596.2:p.Ser465Leu
NR_110451.2:n.1001C>T