Canonical Allele Identifier: CA360485295
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96429284-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429284G>T , CM000667.2:g.96429284G>T GRCh38
NC_000005.9:g.95764988G>T , CM000667.1:g.95764988G>T GRCh37
NC_000005.8:g.95790744G>T NCBI36
NG_021161.1:g.8998C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.214C>A MANE Select ENSP00000308024.2:p.His72Asn
ENST00000311106.7:c.214C>A ENSP00000308024.2:p.His72Asn
ENST00000508626.5:c.73C>A ENSP00000421600.1:p.His25Asn
ENST00000509190.1:c.214C>A ENSP00000427294.1:p.His72Asn
NM_000439.4:c.214C>A NP_000430.3:p.His72Asn
NM_001177875.1:c.73C>A NP_001171346.1:p.His25Asn
NR_130776.1:n.354+49632G>T
NM_000439.5:c.214C>A MANE Select NP_000430.3:p.His72Asn
NM_001177875.2:c.73C>A NP_001171346.1:p.His25Asn