Canonical Allele Identifier: CA360477260
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393347T>A , CM000667.2:g.96393347T>A GRCh38
NC_000005.9:g.95729051T>A , CM000667.1:g.95729051T>A GRCh37
NC_000005.8:g.95754807T>A NCBI36
NG_021161.1:g.44935A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1916A>T MANE Select ENSP00000308024.2:p.Asn639Ile
ENST00000311106.7:c.1916A>T ENSP00000308024.2:p.Asn639Ile
ENST00000508626.5:c.1775A>T ENSP00000421600.1:p.Asn592Ile
ENST00000513085.1:n.1059A>T
NM_000439.4:c.1916A>T NP_000430.3:p.Asn639Ile
NM_001177875.1:c.1775A>T NP_001171346.1:p.Asn592Ile
NR_130776.1:n.354+13695T>A
NM_000439.5:c.1916A>T MANE Select NP_000430.3:p.Asn639Ile
NM_001177875.2:c.1775A>T NP_001171346.1:p.Asn592Ile