Canonical Allele Identifier: CA122935889
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs867524772

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429289A>G , CM000667.2:g.96429289A>G GRCh38
NC_000005.9:g.95764993A>G , CM000667.1:g.95764993A>G GRCh37
NC_000005.8:g.95790749A>G NCBI36
NG_021161.1:g.8993T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.209T>C MANE Select ENSP00000308024.2:p.Phe70Ser
ENST00000311106.7:c.209T>C ENSP00000308024.2:p.Phe70Ser
ENST00000508626.5:c.68T>C ENSP00000421600.1:p.Phe23Ser
ENST00000509190.1:c.209T>C ENSP00000427294.1:p.Phe70Ser
NM_000439.4:c.209T>C NP_000430.3:p.Phe70Ser
NM_001177875.1:c.68T>C NP_001171346.1:p.Phe23Ser
NR_130776.1:n.354+49637A>G
NM_000439.5:c.209T>C MANE Select NP_000430.3:p.Phe70Ser
NM_001177875.2:c.68T>C NP_001171346.1:p.Phe23Ser