Canonical Allele Identifier: CA2645837938

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55043710-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043710G>C , CM000663.2:g.55043710G>C	GRCh38
NC_000001.10:g.55509383G>C , CM000663.1:g.55509383G>C	GRCh37
NC_000001.9:g.55281971G>C	NCBI36
NG_009061.1:g.9164G>C , LRG_275:g.9164G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.208-133G>C	ENSP00000501161.2:n.208-133G>C
ENST00000710286.1:c.565-133G>C	ENSP00000518176.1:n.565-133G>C
ENST00000673726.1:c.208-133G>C	ENSP00000501004.1:n.208-133G>C
ENST00000673903.1:c.-168-133G>C	ENSP00000501257.1:n.-168-133G>C
ENST00000302118.5:c.208-133G>C MANE Select	ENSP00000303208.5:n.208-133G>C
NM_174936.3:c.208-133G>C , LRG_275t1:c.208-133G>C	NP_777596.2:n.208-133G>C
NR_110451.1:n.182+3307G>C
NM_174936.4:c.208-133G>C MANE Select	NP_777596.2:n.208-133G>C
NR_110451.2:n.182+3307G>C