Canonical Allele Identifier: CA360485183
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429244T>G , CM000667.2:g.96429244T>G GRCh38
NC_000005.9:g.95764948T>G , CM000667.1:g.95764948T>G GRCh37
NC_000005.8:g.95790704T>G NCBI36
NG_021161.1:g.9038A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.254A>C MANE Select ENSP00000308024.2:p.His85Pro
ENST00000311106.7:c.254A>C ENSP00000308024.2:p.His85Pro
ENST00000508626.5:c.113A>C ENSP00000421600.1:p.His38Pro
ENST00000509190.1:c.254A>C ENSP00000427294.1:p.His85Pro
NM_000439.4:c.254A>C NP_000430.3:p.His85Pro
NM_001177875.1:c.113A>C NP_001171346.1:p.His38Pro
NR_130776.1:n.354+49592T>G
NM_000439.5:c.254A>C MANE Select NP_000430.3:p.His85Pro
NM_001177875.2:c.113A>C NP_001171346.1:p.His38Pro