Canonical Allele Identifier: CA122918740

Gene: PCSK1

Linked Data

• dbSNP Id: rs928352779
• gnomAD v3: 5-96416075-G-C
• gnomAD v4: 5-96416075-G-C
• MyVariant Identifiers: chr5:g.95751779G>C (hg19) ; chr5:g.96416075G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416075G>C , CM000667.2:g.96416075G>C	GRCh38
NC_000005.9:g.95751779G>C , CM000667.1:g.95751779G>C	GRCh37
NC_000005.8:g.95777535G>C	NCBI36
NG_021161.1:g.22207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.667C>G MANE Select	ENSP00000308024.2:p.His223Asp
ENST00000311106.7:c.667C>G	ENSP00000308024.2:p.His223Asp
ENST00000508626.5:c.526C>G	ENSP00000421600.1:p.His176Asp
NM_000439.4:c.667C>G	NP_000430.3:p.His223Asp
NM_001177875.1:c.526C>G	NP_001171346.1:p.His176Asp
NR_130776.1:n.354+36423G>C
NM_000439.5:c.667C>G MANE Select	NP_000430.3:p.His223Asp
NM_001177875.2:c.526C>G	NP_001171346.1:p.His176Asp