Canonical Allele Identifier: CA445496743

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95751798A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416094A>T , CM000667.2:g.96416094A>T	GRCh38
NC_000005.9:g.95751798A>T , CM000667.1:g.95751798A>T	GRCh37
NC_000005.8:g.95777554A>T	NCBI36
NG_021161.1:g.22188T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.648T>A MANE Select	ENSP00000308024.2:p.Ile216=
ENST00000311106.7:c.648T>A	ENSP00000308024.2:p.Ile216=
ENST00000508626.5:c.507T>A	ENSP00000421600.1:p.Ile169=
NM_000439.4:c.648T>A	NP_000430.3:p.Ile216=
NM_001177875.1:c.507T>A	NP_001171346.1:p.Ile169=
NR_130776.1:n.354+36442A>T
NM_000439.5:c.648T>A MANE Select	NP_000430.3:p.Ile216=
NM_001177875.2:c.507T>A	NP_001171346.1:p.Ile169=