Canonical Allele Identifier: CA417960621

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529095T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063422T>C , CM000663.2:g.55063422T>C	GRCh38
NC_000001.10:g.55529095T>C , CM000663.1:g.55529095T>C	GRCh37
NC_000001.9:g.55301683T>C	NCBI36
NG_009061.1:g.28876T>C , LRG_275:g.28876T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*257T>C	ENSP00000501161.2:n.*257T>C
ENST00000710286.1:c.2274T>C	ENSP00000518176.1:p.Pro758=
ENST00000673903.1:c.1542T>C	ENSP00000501257.1:p.Pro514=
ENST00000673913.1:c.767T>C	ENSP00000501161.1:n.767T>C
ENST00000302118.5:c.1917T>C MANE Select	ENSP00000303208.5:p.Pro639=
ENST00000490692.1:n.2463T>C
NM_174936.3:c.1917T>C , LRG_275t1:c.1917T>C	NP_777596.2:p.Pro639=
NR_110451.1:n.1524T>C
XM_011541193.1:c.1038T>C	XP_011539495.1:p.Pro346=
NM_174936.4:c.1917T>C MANE Select	NP_777596.2:p.Pro639=
NR_110451.2:n.1524T>C