Canonical Allele Identifier: CA360485357
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96429310-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429310G>T , CM000667.2:g.96429310G>T GRCh38
NC_000005.9:g.95765014G>T , CM000667.1:g.95765014G>T GRCh37
NC_000005.8:g.95790770G>T NCBI36
NG_021161.1:g.8972C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.188C>A MANE Select ENSP00000308024.2:p.Ser63Ter
ENST00000311106.7:c.188C>A ENSP00000308024.2:p.Ser63Ter
ENST00000508626.5:c.47C>A ENSP00000421600.1:p.Ser16Ter
ENST00000509190.1:c.188C>A ENSP00000427294.1:p.Ser63Ter
NM_000439.4:c.188C>A NP_000430.3:p.Ser63Ter
NM_001177875.1:c.47C>A NP_001171346.1:p.Ser16Ter
NR_130776.1:n.354+49658G>T
NM_000439.5:c.188C>A MANE Select NP_000430.3:p.Ser63Ter
NM_001177875.2:c.47C>A NP_001171346.1:p.Ser16Ter