Canonical Allele Identifier: CA10621008

Gene: PCSK1

Linked Data

• ClinVar Variation Id: 354622
• ClinVar RCV Id: RCV000272141 ; RCV000329524
• dbSNP Id: rs373852338
• gnomAD v3: 5-96391769-C-T
• gnomAD v4: 5-96391769-C-T
• MyVariant Identifiers: chr5:g.95727473C>T (hg19) ; chr5:g.96391769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96391769C>T , CM000667.2:g.96391769C>T	GRCh38
NC_000005.9:g.95727473C>T , CM000667.1:g.95727473C>T	GRCh37
NC_000005.8:g.95753229C>T	NCBI36
NG_021161.1:g.46513G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.*1232G>A MANE Select	ENSP00000308024.2:n.*1232G>A
ENST00000311106.7:c.*1232G>A	ENSP00000308024.2:n.*1232G>A
NM_000439.4:c.*1232G>A	NP_000430.3:n.*1232G>A
NM_001177875.1:c.*1232G>A	NP_001171346.1:n.*1232G>A
NR_130776.1:n.354+12117C>T
NM_000439.5:c.*1232G>A MANE Select	NP_000430.3:n.*1232G>A
NM_001177875.2:c.*1232G>A	NP_001171346.1:n.*1232G>A