Canonical Allele Identifier: CA522961032

Gene: PCSK9

Linked Data

• dbSNP Id: rs1349761301
• gnomAD v2: 1-55518857-G-C
• gnomAD v3: 1-55053184-G-C
• gnomAD v4: 1-55053184-G-C
• MyVariant Identifiers: chr1:g.55518857G>C (hg19) ; chr1:g.55053184G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55053184G>C , CM000663.2:g.55053184G>C	GRCh38
NC_000001.10:g.55518857G>C , CM000663.1:g.55518857G>C	GRCh37
NC_000001.9:g.55291445G>C	NCBI36
NG_009061.1:g.18638G>C , LRG_275:g.18638G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.799+393G>C	ENSP00000501161.2:n.799+393G>C
ENST00000710286.1:c.1156+393G>C	ENSP00000518176.1:n.1156+393G>C
ENST00000673903.1:c.424+393G>C	ENSP00000501257.1:n.424+393G>C
ENST00000302118.5:c.799+393G>C MANE Select	ENSP00000303208.5:n.799+393G>C
ENST00000490692.1:n.1620+393G>C
NM_174936.3:c.799+393G>C , LRG_275t1:c.799+393G>C	NP_777596.2:n.799+393G>C
NR_110451.1:n.458+393G>C
NM_174936.4:c.799+393G>C MANE Select	NP_777596.2:n.799+393G>C
NR_110451.2:n.458+393G>C