Canonical Allele Identifier: CA360483280
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416110C>T , CM000667.2:g.96416110C>T GRCh38
NC_000005.9:g.95751814C>T , CM000667.1:g.95751814C>T GRCh37
NC_000005.8:g.95777570C>T NCBI36
NG_021161.1:g.22172G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.632G>A MANE Select ENSP00000308024.2:p.Arg211Lys
ENST00000311106.7:c.632G>A ENSP00000308024.2:p.Arg211Lys
ENST00000508626.5:c.491G>A ENSP00000421600.1:p.Arg164Lys
NM_000439.4:c.632G>A NP_000430.3:p.Arg211Lys
NM_001177875.1:c.491G>A NP_001171346.1:p.Arg164Lys
NR_130776.1:n.354+36458C>T
NM_000439.5:c.632G>A MANE Select NP_000430.3:p.Arg211Lys
NM_001177875.2:c.491G>A NP_001171346.1:p.Arg164Lys