Canonical Allele Identifier: CA3350070
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs752527939
gnomAD v2: 5-95728976-G-A
gnomAD v3: 5-96393272-G-A
gnomAD v4: 5-96393272-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393272G>A , CM000667.2:g.96393272G>A GRCh38
NC_000005.9:g.95728976G>A , CM000667.1:g.95728976G>A GRCh37
NC_000005.8:g.95754732G>A NCBI36
NG_021161.1:g.45010C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1991C>T MANE Select ENSP00000308024.2:p.Ser664Phe
ENST00000311106.7:c.1991C>T ENSP00000308024.2:p.Ser664Phe
ENST00000508626.5:c.1850C>T ENSP00000421600.1:p.Ser617Phe
ENST00000513085.1:n.1134C>T
NM_000439.4:c.1991C>T NP_000430.3:p.Ser664Phe
NM_001177875.1:c.1850C>T NP_001171346.1:p.Ser617Phe
NR_130776.1:n.354+13620G>A
NM_000439.5:c.1991C>T MANE Select NP_000430.3:p.Ser664Phe
NM_001177875.2:c.1850C>T NP_001171346.1:p.Ser617Phe