Canonical Allele Identifier: CA360485370
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96429316-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429316A>G , CM000667.2:g.96429316A>G GRCh38
NC_000005.9:g.95765020A>G , CM000667.1:g.95765020A>G GRCh37
NC_000005.8:g.95790776A>G NCBI36
NG_021161.1:g.8966T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.182T>C MANE Select ENSP00000308024.2:p.Ile61Thr
ENST00000311106.7:c.182T>C ENSP00000308024.2:p.Ile61Thr
ENST00000508626.5:c.41T>C ENSP00000421600.1:p.Ile14Thr
ENST00000509190.1:c.182T>C ENSP00000427294.1:p.Ile61Thr
NM_000439.4:c.182T>C NP_000430.3:p.Ile61Thr
NM_001177875.1:c.41T>C NP_001171346.1:p.Ile14Thr
NR_130776.1:n.354+49664A>G
NM_000439.5:c.182T>C MANE Select NP_000430.3:p.Ile61Thr
NM_001177875.2:c.41T>C NP_001171346.1:p.Ile14Thr