Canonical Allele Identifier: CA417957559

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55509662T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043989T>C , CM000663.2:g.55043989T>C	GRCh38
NC_000001.10:g.55509662T>C , CM000663.1:g.55509662T>C	GRCh37
NC_000001.9:g.55282250T>C	NCBI36
NG_009061.1:g.9443T>C , LRG_275:g.9443T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.354T>C	ENSP00000501161.2:p.Leu118=
ENST00000710286.1:c.711T>C	ENSP00000518176.1:p.Leu237=
ENST00000673662.1:n.24T>C
ENST00000673726.1:c.354T>C	ENSP00000501004.1:p.Leu118=
ENST00000673903.1:c.-22T>C	ENSP00000501257.1:n.-22T>C
ENST00000302118.5:c.354T>C MANE Select	ENSP00000303208.5:p.Leu118=
NM_174936.3:c.354T>C , LRG_275t1:c.354T>C	NP_777596.2:p.Leu118=
NR_110451.1:n.182+3586T>C
NM_174936.4:c.354T>C MANE Select	NP_777596.2:p.Leu118=
NR_110451.2:n.182+3586T>C