Canonical Allele Identifier: CA11975475
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs156019
gnomAD v2: 5-95747363-A-T
gnomAD v3: 5-96411659-A-T
gnomAD v4: 5-96411659-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96411659A>T , CM000667.2:g.96411659A>T GRCh38
NC_000005.9:g.95747363A>T , CM000667.1:g.95747363A>T GRCh37
NC_000005.8:g.95773119A>T NCBI36
NG_021161.1:g.26623T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000311106.8:c.882+659T>A MANE Select ENSP00000308024.2:n.882+659T>A
ENST00000311106.7:c.882+659T>A ENSP00000308024.2:n.882+659T>A
ENST00000508626.5:c.741+659T>A ENSP00000421600.1:n.741+659T>A
ENST00000513085.1:n.238+659T>A
NM_000439.4:c.882+659T>A NP_000430.3:n.882+659T>A
NM_001177875.1:c.741+659T>A NP_001171346.1:n.741+659T>A
NR_130776.1:n.354+32007A>T
NM_000439.5:c.882+659T>A MANE Select NP_000430.3:n.882+659T>A
NM_001177875.2:c.741+659T>A NP_001171346.1:n.741+659T>A