Canonical Allele Identifier: CA2767554343

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429030A>T , CM000667.2:g.96429030A>T	GRCh38
NC_000005.9:g.95764734A>T , CM000667.1:g.95764734A>T	GRCh37
NC_000005.8:g.95790490A>T	NCBI36
NG_021161.1:g.9252T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+183T>A MANE Select	ENSP00000308024.2:n.285+183T>A
ENST00000311106.7:c.285+183T>A	ENSP00000308024.2:n.285+183T>A
ENST00000508626.5:c.144+183T>A	ENSP00000421600.1:n.144+183T>A
ENST00000509190.1:c.285+183T>A	ENSP00000427294.1:n.285+183T>A
NM_000439.4:c.285+183T>A	NP_000430.3:n.285+183T>A
NM_001177875.1:c.144+183T>A	NP_001171346.1:n.144+183T>A
NR_130776.1:n.354+49378A>T
NM_000439.5:c.285+183T>A MANE Select	NP_000430.3:n.285+183T>A
NM_001177875.2:c.144+183T>A	NP_001171346.1:n.144+183T>A