Canonical Allele Identifier: CA3350546

Gene: PCSK1

Linked Data

• ClinVar Variation Id: 710324
• ClinVar RCV Id: RCV000881877 ; RCV001817075 ; RCV003930552
• dbSNP Id: rs143280562
• ExAC: 5:95764932 T / C
• gnomAD v2: 5-95764932-T-C
• gnomAD v3: 5-96429228-T-C
• gnomAD v4: 5-96429228-T-C
• MyVariant Identifiers: chr5:g.95764932T>C (hg19) ; chr5:g.96429228T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429228T>C , CM000667.2:g.96429228T>C	GRCh38
NC_000005.9:g.95764932T>C , CM000667.1:g.95764932T>C	GRCh37
NC_000005.8:g.95790688T>C	NCBI36
NG_021161.1:g.9054A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.270A>G MANE Select	ENSP00000308024.2:p.Leu90=
ENST00000311106.7:c.270A>G	ENSP00000308024.2:p.Leu90=
ENST00000508626.5:c.129A>G	ENSP00000421600.1:p.Leu43=
ENST00000509190.1:c.270A>G	ENSP00000427294.1:p.Leu90=
NM_000439.4:c.270A>G	NP_000430.3:p.Leu90=
NM_001177875.1:c.129A>G	NP_001171346.1:p.Leu43=
NR_130776.1:n.354+49576T>C
NM_000439.5:c.270A>G MANE Select	NP_000430.3:p.Leu90=
NM_001177875.2:c.129A>G	NP_001171346.1:p.Leu43=