Canonical Allele Identifier: CA3350549

Gene: PCSK1

Linked Data

• dbSNP Id: rs760269702
• ExAC: 5:95764958 T / A
• gnomAD v2: 5-95764958-T-A
• gnomAD v4: 5-96429254-T-A
• MyVariant Identifiers: chr5:g.95764958T>A (hg19) ; chr5:g.96429254T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429254T>A , CM000667.2:g.96429254T>A	GRCh38
NC_000005.9:g.95764958T>A , CM000667.1:g.95764958T>A	GRCh37
NC_000005.8:g.95790714T>A	NCBI36
NG_021161.1:g.9028A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.244A>T MANE Select	ENSP00000308024.2:p.Ser82Cys
ENST00000311106.7:c.244A>T	ENSP00000308024.2:p.Ser82Cys
ENST00000508626.5:c.103A>T	ENSP00000421600.1:p.Ser35Cys
ENST00000509190.1:c.244A>T	ENSP00000427294.1:p.Ser82Cys
NM_000439.4:c.244A>T	NP_000430.3:p.Ser82Cys
NM_001177875.1:c.103A>T	NP_001171346.1:p.Ser35Cys
NR_130776.1:n.354+49602T>A
NM_000439.5:c.244A>T MANE Select	NP_000430.3:p.Ser82Cys
NM_001177875.2:c.103A>T	NP_001171346.1:p.Ser35Cys