Canonical Allele Identifier: CA360485355
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429308G>A , CM000667.2:g.96429308G>A GRCh38
NC_000005.9:g.95765012G>A , CM000667.1:g.95765012G>A GRCh37
NC_000005.8:g.95790768G>A NCBI36
NG_021161.1:g.8974C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.190C>T MANE Select ENSP00000308024.2:p.Leu64Phe
ENST00000311106.7:c.190C>T ENSP00000308024.2:p.Leu64Phe
ENST00000508626.5:c.49C>T ENSP00000421600.1:p.Leu17Phe
ENST00000509190.1:c.190C>T ENSP00000427294.1:p.Leu64Phe
NM_000439.4:c.190C>T NP_000430.3:p.Leu64Phe
NM_001177875.1:c.49C>T NP_001171346.1:p.Leu17Phe
NR_130776.1:n.354+49656G>A
NM_000439.5:c.190C>T MANE Select NP_000430.3:p.Leu64Phe
NM_001177875.2:c.49C>T NP_001171346.1:p.Leu17Phe