Canonical Allele Identifier: CA340478919

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55524240G>C (hg19) ; chr1:g.55058567G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058567G>C , CM000663.2:g.55058567G>C	GRCh38
NC_000001.10:g.55524240G>C , CM000663.1:g.55524240G>C	GRCh37
NC_000001.9:g.55296828G>C	NCBI36
NG_009061.1:g.24021G>C , LRG_275:g.24021G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.1423G>C	ENSP00000501161.2:p.Ala475Pro
ENST00000710286.1:c.1780G>C	ENSP00000518176.1:p.Ala594Pro
ENST00000673903.1:c.1048G>C	ENSP00000501257.1:p.Ala350Pro
ENST00000673913.1:c.163G>C	ENSP00000501161.1:p.Ala55Pro
ENST00000302118.5:c.1423G>C MANE Select	ENSP00000303208.5:p.Ala475Pro
ENST00000490692.1:n.2147G>C
NM_174936.3:c.1423G>C , LRG_275t1:c.1423G>C	NP_777596.2:p.Ala475Pro
NR_110451.1:n.1030G>C
XM_011541193.1:c.544G>C	XP_011539495.1:p.Ala182Pro
NM_174936.4:c.1423G>C MANE Select	NP_777596.2:p.Ala475Pro
NR_110451.2:n.1030G>C