Canonical Allele Identifier: CA340480461

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527195T>C (hg19) ; chr1:g.55061522T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061522T>C , CM000663.2:g.55061522T>C	GRCh38
NC_000001.10:g.55527195T>C , CM000663.1:g.55527195T>C	GRCh37
NC_000001.9:g.55299783T>C	NCBI36
NG_009061.1:g.26976T>C , LRG_275:g.26976T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*169T>C	ENSP00000501161.2:n.*169T>C
ENST00000710286.1:c.2186T>C	ENSP00000518176.1:p.Val729Ala
ENST00000673903.1:c.1454T>C	ENSP00000501257.1:p.Val485Ala
ENST00000673913.1:c.679T>C	ENSP00000501161.1:n.679T>C
ENST00000302118.5:c.1829T>C MANE Select	ENSP00000303208.5:p.Val610Ala
ENST00000490692.1:n.2375T>C
NM_174936.3:c.1829T>C , LRG_275t1:c.1829T>C	NP_777596.2:p.Val610Ala
NR_110451.1:n.1436T>C
XM_011541193.1:c.950T>C	XP_011539495.1:p.Val317Ala
NM_174936.4:c.1829T>C MANE Select	NP_777596.2:p.Val610Ala
NR_110451.2:n.1436T>C