Canonical Allele Identifier: CA360485262

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429271-G-T
• MyVariant Identifiers: chr5:g.95764975G>T (hg19) ; chr5:g.96429271G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429271G>T , CM000667.2:g.96429271G>T	GRCh38
NC_000005.9:g.95764975G>T , CM000667.1:g.95764975G>T	GRCh37
NC_000005.8:g.95790731G>T	NCBI36
NG_021161.1:g.9011C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000311106.8:c.227C>A MANE Select	ENSP00000308024.2:p.Pro76His
ENST00000311106.7:c.227C>A	ENSP00000308024.2:p.Pro76His
ENST00000508626.5:c.86C>A	ENSP00000421600.1:p.Pro29His
ENST00000509190.1:c.227C>A	ENSP00000427294.1:p.Pro76His
NM_000439.4:c.227C>A	NP_000430.3:p.Pro76His
NM_001177875.1:c.86C>A	NP_001171346.1:p.Pro29His
NR_130776.1:n.354+49619G>T
NM_000439.5:c.227C>A MANE Select	NP_000430.3:p.Pro76His
NM_001177875.2:c.86C>A	NP_001171346.1:p.Pro29His