Canonical Allele Identifier: CA340480320

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527132T>C (hg19) ; chr1:g.55061459T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061459T>C , CM000663.2:g.55061459T>C	GRCh38
NC_000001.10:g.55527132T>C , CM000663.1:g.55527132T>C	GRCh37
NC_000001.9:g.55299720T>C	NCBI36
NG_009061.1:g.26913T>C , LRG_275:g.26913T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*106T>C	ENSP00000501161.2:n.*106T>C
ENST00000710286.1:c.2123T>C	ENSP00000518176.1:p.Val708Ala
ENST00000673903.1:c.1391T>C	ENSP00000501257.1:p.Val464Ala
ENST00000673913.1:c.616T>C	ENSP00000501161.1:n.616T>C
ENST00000302118.5:c.1766T>C MANE Select	ENSP00000303208.5:p.Val589Ala
ENST00000490692.1:n.2312T>C
NM_174936.3:c.1766T>C , LRG_275t1:c.1766T>C	NP_777596.2:p.Val589Ala
NR_110451.1:n.1373T>C
XM_011541193.1:c.887T>C	XP_011539495.1:p.Val296Ala
NM_174936.4:c.1766T>C MANE Select	NP_777596.2:p.Val589Ala
NR_110451.2:n.1373T>C