Canonical Allele Identifier: CA417960613

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529086T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063413T>C , CM000663.2:g.55063413T>C	GRCh38
NC_000001.10:g.55529086T>C , CM000663.1:g.55529086T>C	GRCh37
NC_000001.9:g.55301674T>C	NCBI36
NG_009061.1:g.28867T>C , LRG_275:g.28867T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*248T>C	ENSP00000501161.2:n.*248T>C
ENST00000710286.1:c.2265T>C	ENSP00000518176.1:p.Ser755=
ENST00000673903.1:c.1533T>C	ENSP00000501257.1:p.Ser511=
ENST00000673913.1:c.758T>C	ENSP00000501161.1:n.758T>C
ENST00000302118.5:c.1908T>C MANE Select	ENSP00000303208.5:p.Ser636=
ENST00000490692.1:n.2454T>C
NM_174936.3:c.1908T>C , LRG_275t1:c.1908T>C	NP_777596.2:p.Ser636=
NR_110451.1:n.1515T>C
XM_011541193.1:c.1029T>C	XP_011539495.1:p.Ser343=
NM_174936.4:c.1908T>C MANE Select	NP_777596.2:p.Ser636=
NR_110451.2:n.1515T>C