Canonical Allele Identifier: CA360485206

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429250-G-A
• MyVariant Identifiers: chr5:g.95764954G>A (hg19) ; chr5:g.96429250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429250G>A , CM000667.2:g.96429250G>A	GRCh38
NC_000005.9:g.95764954G>A , CM000667.1:g.95764954G>A	GRCh37
NC_000005.8:g.95790710G>A	NCBI36
NG_021161.1:g.9032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.248C>T MANE Select	ENSP00000308024.2:p.Ala83Val
ENST00000311106.7:c.248C>T	ENSP00000308024.2:p.Ala83Val
ENST00000508626.5:c.107C>T	ENSP00000421600.1:p.Ala36Val
ENST00000509190.1:c.248C>T	ENSP00000427294.1:p.Ala83Val
NM_000439.4:c.248C>T	NP_000430.3:p.Ala83Val
NM_001177875.1:c.107C>T	NP_001171346.1:p.Ala36Val
NR_130776.1:n.354+49598G>A
NM_000439.5:c.248C>T MANE Select	NP_000430.3:p.Ala83Val
NM_001177875.2:c.107C>T	NP_001171346.1:p.Ala36Val