Canonical Allele Identifier: CA340480902

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529226A>C (hg19) ; chr1:g.55063553A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063553A>C , CM000663.2:g.55063553A>C	GRCh38
NC_000001.10:g.55529226A>C , CM000663.1:g.55529226A>C	GRCh37
NC_000001.9:g.55301814A>C	NCBI36
NG_009061.1:g.29007A>C , LRG_275:g.29007A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*388A>C	ENSP00000501161.2:n.*388A>C
ENST00000710286.1:c.2405A>C	ENSP00000518176.1:p.His802Pro
ENST00000673903.1:c.1673A>C	ENSP00000501257.1:p.His558Pro
ENST00000302118.5:c.2048A>C MANE Select	ENSP00000303208.5:p.His683Pro
ENST00000490692.1:n.2594A>C
NM_174936.3:c.2048A>C , LRG_275t1:c.2048A>C	NP_777596.2:p.His683Pro
NR_110451.1:n.1655A>C
XM_011541193.1:c.1169A>C	XP_011539495.1:p.His390Pro
NM_174936.4:c.2048A>C MANE Select	NP_777596.2:p.His683Pro
NR_110451.2:n.1655A>C