Canonical Allele Identifier: CA360485157

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429239-T-C
• MyVariant Identifiers: chr5:g.95764943T>C (hg19) ; chr5:g.96429239T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429239T>C , CM000667.2:g.96429239T>C	GRCh38
NC_000005.9:g.95764943T>C , CM000667.1:g.95764943T>C	GRCh37
NC_000005.8:g.95790699T>C	NCBI36
NG_021161.1:g.9043A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.259A>G MANE Select	ENSP00000308024.2:p.Thr87Ala
ENST00000311106.7:c.259A>G	ENSP00000308024.2:p.Thr87Ala
ENST00000508626.5:c.118A>G	ENSP00000421600.1:p.Thr40Ala
ENST00000509190.1:c.259A>G	ENSP00000427294.1:p.Thr87Ala
NM_000439.4:c.259A>G	NP_000430.3:p.Thr87Ala
NM_001177875.1:c.118A>G	NP_001171346.1:p.Thr40Ala
NR_130776.1:n.354+49587T>C
NM_000439.5:c.259A>G MANE Select	NP_000430.3:p.Thr87Ala
NM_001177875.2:c.118A>G	NP_001171346.1:p.Thr40Ala