Canonical Allele Identifier: CA039246

Gene: PCSK9

Linked Data

• dbSNP Id: rs750156218
• ExAC: 1:55527261 G / C
• gnomAD v2: 1-55527261-G-C
• gnomAD v4: 1-55061588-G-C
• MyVariant Identifiers: chr1:g.55527261G>C (hg19) ; chr1:g.55061588G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061588G>C , CM000663.2:g.55061588G>C	GRCh38
NC_000001.10:g.55527261G>C , CM000663.1:g.55527261G>C	GRCh37
NC_000001.9:g.55299849G>C	NCBI36
NG_009061.1:g.27042G>C , LRG_275:g.27042G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*203+32G>C	ENSP00000501161.2:n.*203+32G>C
ENST00000710286.1:c.2220+32G>C	ENSP00000518176.1:n.2220+32G>C
ENST00000673903.1:c.1488+32G>C	ENSP00000501257.1:n.1488+32G>C
ENST00000673913.1:c.713+32G>C	ENSP00000501161.1:n.713+32G>C
ENST00000302118.5:c.1863+32G>C MANE Select	ENSP00000303208.5:n.1863+32G>C
ENST00000490692.1:n.2409+32G>C
NM_174936.3:c.1863+32G>C , LRG_275t1:c.1863+32G>C	NP_777596.2:n.1863+32G>C
NR_110451.1:n.1470+32G>C
XM_011541193.1:c.984+32G>C	XP_011539495.1:n.984+32G>C
NM_174936.4:c.1863+32G>C MANE Select	NP_777596.2:n.1863+32G>C
NR_110451.2:n.1470+32G>C