Canonical Allele Identifier: CA3350424

Gene: PCSK1

Linked Data

• ClinVar Variation Id: 354651
• ClinVar RCV Id: RCV000313031 ; RCV000369988 ; RCV001613176
• dbSNP Id: rs6231
• ExAC: 5:95757592 G / A
• gnomAD v2: 5-95757592-G-A
• gnomAD v3: 5-96421888-G-A
• gnomAD v4: 5-96421888-G-A
• MyVariant Identifiers: chr5:g.95757592G>A (hg19) ; chr5:g.96421888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96421888G>A , CM000667.2:g.96421888G>A	GRCh38
NC_000005.9:g.95757592G>A , CM000667.1:g.95757592G>A	GRCh37
NC_000005.8:g.95783348G>A	NCBI36
NG_021161.1:g.16394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.612C>T MANE Select	ENSP00000308024.2:p.Asn204=
ENST00000311106.7:c.612C>T	ENSP00000308024.2:p.Asn204=
ENST00000508626.5:c.471C>T	ENSP00000421600.1:p.Asn157=
NM_000439.4:c.612C>T	NP_000430.3:p.Asn204=
NM_001177875.1:c.471C>T	NP_001171346.1:p.Asn157=
NR_130776.1:n.354+42236G>A
NM_000439.5:c.612C>T MANE Select	NP_000430.3:p.Asn204=
NM_001177875.2:c.471C>T	NP_001171346.1:p.Asn157=