Canonical Allele Identifier: CA360479220
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96399038T>G , CM000667.2:g.96399038T>G GRCh38
NC_000005.9:g.95734742T>G , CM000667.1:g.95734742T>G GRCh37
NC_000005.8:g.95760498T>G NCBI36
NG_021161.1:g.39244A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1431-2A>C MANE Select ENSP00000308024.2:n.1431-2A>C
ENST00000311106.7:c.1431-2A>C ENSP00000308024.2:n.1431-2A>C
ENST00000508626.5:c.1290-2A>C ENSP00000421600.1:n.1290-2A>C
ENST00000513085.1:n.574-2A>C
NM_000439.4:c.1431-2A>C NP_000430.3:n.1431-2A>C
NM_001177875.1:c.1290-2A>C NP_001171346.1:n.1290-2A>C
NR_130776.1:n.354+19386T>G
NM_000439.5:c.1431-2A>C MANE Select NP_000430.3:n.1431-2A>C
NM_001177875.2:c.1290-2A>C NP_001171346.1:n.1290-2A>C