Canonical Allele Identifier: CA561283461
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1326957876
gnomAD v2: 5-95751725-C-T
gnomAD v3: 5-96416021-C-T
gnomAD v4: 5-96416021-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416021C>T , CM000667.2:g.96416021C>T GRCh38
NC_000005.9:g.95751725C>T , CM000667.1:g.95751725C>T GRCh37
NC_000005.8:g.95777481C>T NCBI36
NG_021161.1:g.22261G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.709+12G>A MANE Select ENSP00000308024.2:n.709+12G>A
ENST00000311106.7:c.709+12G>A ENSP00000308024.2:n.709+12G>A
ENST00000508626.5:c.568+12G>A ENSP00000421600.1:n.568+12G>A
NM_000439.4:c.709+12G>A NP_000430.3:n.709+12G>A
NM_001177875.1:c.568+12G>A NP_001171346.1:n.568+12G>A
NR_130776.1:n.354+36369C>T
NM_000439.5:c.709+12G>A MANE Select NP_000430.3:n.709+12G>A
NM_001177875.2:c.568+12G>A NP_001171346.1:n.568+12G>A