Canonical Allele Identifier: CA360485290

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95764986A>T (hg19) ; chr5:g.96429282A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429282A>T , CM000667.2:g.96429282A>T	GRCh38
NC_000005.9:g.95764986A>T , CM000667.1:g.95764986A>T	GRCh37
NC_000005.8:g.95790742A>T	NCBI36
NG_021161.1:g.9000T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.216T>A MANE Select	ENSP00000308024.2:p.His72Gln
ENST00000311106.7:c.216T>A	ENSP00000308024.2:p.His72Gln
ENST00000508626.5:c.75T>A	ENSP00000421600.1:p.His25Gln
ENST00000509190.1:c.216T>A	ENSP00000427294.1:p.His72Gln
NM_000439.4:c.216T>A	NP_000430.3:p.His72Gln
NM_001177875.1:c.75T>A	NP_001171346.1:p.His25Gln
NR_130776.1:n.354+49630A>T
NM_000439.5:c.216T>A MANE Select	NP_000430.3:p.His72Gln
NM_001177875.2:c.75T>A	NP_001171346.1:p.His25Gln