Canonical Allele Identifier: CA360485346
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96429304-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429304T>C , CM000667.2:g.96429304T>C GRCh38
NC_000005.9:g.95765008T>C , CM000667.1:g.95765008T>C GRCh37
NC_000005.8:g.95790764T>C NCBI36
NG_021161.1:g.8978A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.194A>G MANE Select ENSP00000308024.2:p.Glu65Gly
ENST00000311106.7:c.194A>G ENSP00000308024.2:p.Glu65Gly
ENST00000508626.5:c.53A>G ENSP00000421600.1:p.Glu18Gly
ENST00000509190.1:c.194A>G ENSP00000427294.1:p.Glu65Gly
NM_000439.4:c.194A>G NP_000430.3:p.Glu65Gly
NM_001177875.1:c.53A>G NP_001171346.1:p.Glu18Gly
NR_130776.1:n.354+49652T>C
NM_000439.5:c.194A>G MANE Select NP_000430.3:p.Glu65Gly
NM_001177875.2:c.53A>G NP_001171346.1:p.Glu18Gly