Canonical Allele Identifier: CA360485177

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429243-A-T
• MyVariant Identifiers: chr5:g.95764947A>T (hg19) ; chr5:g.96429243A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429243A>T , CM000667.2:g.96429243A>T	GRCh38
NC_000005.9:g.95764947A>T , CM000667.1:g.95764947A>T	GRCh37
NC_000005.8:g.95790703A>T	NCBI36
NG_021161.1:g.9039T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.255T>A MANE Select	ENSP00000308024.2:p.His85Gln
ENST00000311106.7:c.255T>A	ENSP00000308024.2:p.His85Gln
ENST00000508626.5:c.114T>A	ENSP00000421600.1:p.His38Gln
ENST00000509190.1:c.255T>A	ENSP00000427294.1:p.His85Gln
NM_000439.4:c.255T>A	NP_000430.3:p.His85Gln
NM_001177875.1:c.114T>A	NP_001171346.1:p.His38Gln
NR_130776.1:n.354+49591A>T
NM_000439.5:c.255T>A MANE Select	NP_000430.3:p.His85Gln
NM_001177875.2:c.114T>A	NP_001171346.1:p.His38Gln