Canonical Allele Identifier: CA1565411998

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416095A= , CM000667.2:g.96416095A=	GRCh38
NC_000005.9:g.95751799A= , CM000667.1:g.95751799A=	GRCh37
NC_000005.8:g.95777555A=	NCBI36
NG_021161.1:g.22187T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.647T= MANE Select	ENSP00000308024.2:p.Ile216=
ENST00000311106.7:c.647T=	ENSP00000308024.2:p.Ile216=
ENST00000508626.5:c.506T=	ENSP00000421600.1:p.Ile169=
NM_000439.4:c.647T=	NP_000430.3:p.Ile216=
NM_001177875.1:c.506T=	NP_001171346.1:p.Ile169=
NR_130776.1:n.354+36443A=
NM_000439.5:c.647T= MANE Select	NP_000430.3:p.Ile216=
NM_001177875.2:c.506T=	NP_001171346.1:p.Ile169=