Canonical Allele Identifier: CA360485363

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429313-C-T
• MyVariant Identifiers: chr5:g.95765017C>T (hg19) ; chr5:g.96429313C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429313C>T , CM000667.2:g.96429313C>T	GRCh38
NC_000005.9:g.95765017C>T , CM000667.1:g.95765017C>T	GRCh37
NC_000005.8:g.95790773C>T	NCBI36
NG_021161.1:g.8969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.185G>A MANE Select	ENSP00000308024.2:p.Gly62Asp
ENST00000311106.7:c.185G>A	ENSP00000308024.2:p.Gly62Asp
ENST00000508626.5:c.44G>A	ENSP00000421600.1:p.Gly15Asp
ENST00000509190.1:c.185G>A	ENSP00000427294.1:p.Gly62Asp
NM_000439.4:c.185G>A	NP_000430.3:p.Gly62Asp
NM_001177875.1:c.44G>A	NP_001171346.1:p.Gly15Asp
NR_130776.1:n.354+49661C>T
NM_000439.5:c.185G>A MANE Select	NP_000430.3:p.Gly62Asp
NM_001177875.2:c.44G>A	NP_001171346.1:p.Gly15Asp