Canonical Allele Identifier: CA340474129

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55518426A>T (hg19) ; chr1:g.55052753A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55052753A>T , CM000663.2:g.55052753A>T	GRCh38
NC_000001.10:g.55518426A>T , CM000663.1:g.55518426A>T	GRCh37
NC_000001.9:g.55291014A>T	NCBI36
NG_009061.1:g.18207A>T , LRG_275:g.18207A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.761A>T	ENSP00000501161.2:p.Asn254Ile
ENST00000710286.1:c.1118A>T	ENSP00000518176.1:p.Asn373Ile
ENST00000673903.1:c.386A>T	ENSP00000501257.1:p.Asn129Ile
ENST00000302118.5:c.761A>T MANE Select	ENSP00000303208.5:p.Asn254Ile
ENST00000490692.1:n.1582A>T
NM_174936.3:c.761A>T , LRG_275t1:c.761A>T	NP_777596.2:p.Asn254Ile
NR_110451.1:n.420A>T
NM_174936.4:c.761A>T MANE Select	NP_777596.2:p.Asn254Ile
NR_110451.2:n.420A>T