Canonical Allele Identifier: CA3350545

Gene: PCSK1

Linked Data

• dbSNP Id: rs762255140
• ExAC: 5:95764923 A / C
• gnomAD v2: 5-95764923-A-C
• gnomAD v4: 5-96429219-A-C
• MyVariant Identifiers: chr5:g.95764923A>C (hg19) ; chr5:g.96429219A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429219A>C , CM000667.2:g.96429219A>C	GRCh38
NC_000005.9:g.95764923A>C , CM000667.1:g.95764923A>C	GRCh37
NC_000005.8:g.95790679A>C	NCBI36
NG_021161.1:g.9063T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.279T>G MANE Select	ENSP00000308024.2:p.Asp93Glu
ENST00000311106.7:c.279T>G	ENSP00000308024.2:p.Asp93Glu
ENST00000508626.5:c.138T>G	ENSP00000421600.1:p.Asp46Glu
ENST00000509190.1:c.279T>G	ENSP00000427294.1:p.Asp93Glu
NM_000439.4:c.279T>G	NP_000430.3:p.Asp93Glu
NM_001177875.1:c.138T>G	NP_001171346.1:p.Asp46Glu
NR_130776.1:n.354+49567A>C
NM_000439.5:c.279T>G MANE Select	NP_000430.3:p.Asp93Glu
NM_001177875.2:c.138T>G	NP_001171346.1:p.Asp46Glu