Canonical Allele Identifier: CA360485294

Gene: PCSK1

Linked Data

• dbSNP Id: rs1206696074
• gnomAD v2: 5-95764988-G-A
• gnomAD v3: 5-96429284-G-A
• gnomAD v4: 5-96429284-G-A
• MyVariant Identifiers: chr5:g.95764988G>A (hg19) ; chr5:g.96429284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429284G>A , CM000667.2:g.96429284G>A	GRCh38
NC_000005.9:g.95764988G>A , CM000667.1:g.95764988G>A	GRCh37
NC_000005.8:g.95790744G>A	NCBI36
NG_021161.1:g.8998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.214C>T MANE Select	ENSP00000308024.2:p.His72Tyr
ENST00000311106.7:c.214C>T	ENSP00000308024.2:p.His72Tyr
ENST00000508626.5:c.73C>T	ENSP00000421600.1:p.His25Tyr
ENST00000509190.1:c.214C>T	ENSP00000427294.1:p.His72Tyr
NM_000439.4:c.214C>T	NP_000430.3:p.His72Tyr
NM_001177875.1:c.73C>T	NP_001171346.1:p.His25Tyr
NR_130776.1:n.354+49632G>A
NM_000439.5:c.214C>T MANE Select	NP_000430.3:p.His72Tyr
NM_001177875.2:c.73C>T	NP_001171346.1:p.His25Tyr