Canonical Allele Identifier: CA10625311

Gene: PCSK1

Linked Data

• ClinVar Variation Id: 354611
• ClinVar RCV Id: RCV000299659 ; RCV000368351
• dbSNP Id: rs558370034
• gnomAD v3: 5-96390982-T-C
• gnomAD v4: 5-96390982-T-C
• MyVariant Identifiers: chr5:g.95726686T>C (hg19) ; chr5:g.96390982T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96390982T>C , CM000667.2:g.96390982T>C	GRCh38
NC_000005.9:g.95726686T>C , CM000667.1:g.95726686T>C	GRCh37
NC_000005.8:g.95752442T>C	NCBI36
NG_021161.1:g.47300A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.*2019A>G MANE Select	ENSP00000308024.2:n.*2019A>G
ENST00000311106.7:c.*2019A>G	ENSP00000308024.2:n.*2019A>G
NM_000439.4:c.*2019A>G	NP_000430.3:n.*2019A>G
NM_001177875.1:c.*2019A>G	NP_001171346.1:n.*2019A>G
NR_130776.1:n.354+11330T>C
NM_000439.5:c.*2019A>G MANE Select	NP_000430.3:n.*2019A>G
NM_001177875.2:c.*2019A>G	NP_001171346.1:n.*2019A>G