Canonical Allele Identifier: CA418180798

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55517973G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55052300G>C , CM000663.2:g.55052300G>C	GRCh38
NC_000001.10:g.55517973G>C , CM000663.1:g.55517973G>C	GRCh37
NC_000001.9:g.55290561G>C	NCBI36
NG_009061.1:g.17754G>C , LRG_275:g.17754G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.546G>C	ENSP00000501161.2:p.Val182=
ENST00000710286.1:c.903G>C	ENSP00000518176.1:p.Val301=
ENST00000673726.1:c.*42G>C	ENSP00000501004.1:n.*42G>C
ENST00000673903.1:c.171G>C	ENSP00000501257.1:p.Val57=
ENST00000302118.5:c.546G>C MANE Select	ENSP00000303208.5:p.Val182=
ENST00000490692.1:n.1367G>C
NM_174936.3:c.546G>C , LRG_275t1:c.546G>C	NP_777596.2:p.Val182=
NR_110451.1:n.205G>C
NM_174936.4:c.546G>C MANE Select	NP_777596.2:p.Val182=
NR_110451.2:n.205G>C