Canonical Allele Identifier: CA340483796

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55043988-T-C
• MyVariant Identifiers: chr1:g.55509661T>C (hg19) ; chr1:g.55043988T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043988T>C , CM000663.2:g.55043988T>C	GRCh38
NC_000001.10:g.55509661T>C , CM000663.1:g.55509661T>C	GRCh37
NC_000001.9:g.55282249T>C	NCBI36
NG_009061.1:g.9442T>C , LRG_275:g.9442T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.353T>C	ENSP00000501161.2:p.Leu118Pro
ENST00000710286.1:c.710T>C	ENSP00000518176.1:p.Leu237Pro
ENST00000673662.1:n.23T>C
ENST00000673726.1:c.353T>C	ENSP00000501004.1:p.Leu118Pro
ENST00000673903.1:c.-23T>C	ENSP00000501257.1:n.-23T>C
ENST00000302118.5:c.353T>C MANE Select	ENSP00000303208.5:p.Leu118Pro
NM_174936.3:c.353T>C , LRG_275t1:c.353T>C	NP_777596.2:p.Leu118Pro
NR_110451.1:n.182+3585T>C
NM_174936.4:c.353T>C MANE Select	NP_777596.2:p.Leu118Pro
NR_110451.2:n.182+3585T>C