Canonical Allele Identifier: CA3350086

Gene: PCSK1

Linked Data

• dbSNP Id: rs759321730
• ExAC: 5:95729047 G / A
• gnomAD v2: 5-95729047-G-A
• gnomAD v4: 5-96393343-G-A
• MyVariant Identifiers: chr5:g.95729047G>A (hg19) ; chr5:g.96393343G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96393343G>A , CM000667.2:g.96393343G>A	GRCh38
NC_000005.9:g.95729047G>A , CM000667.1:g.95729047G>A	GRCh37
NC_000005.8:g.95754803G>A	NCBI36
NG_021161.1:g.44939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1920C>T MANE Select	ENSP00000308024.2:p.Thr640=
ENST00000311106.7:c.1920C>T	ENSP00000308024.2:p.Thr640=
ENST00000508626.5:c.1779C>T	ENSP00000421600.1:p.Thr593=
ENST00000513085.1:n.1063C>T
NM_000439.4:c.1920C>T	NP_000430.3:p.Thr640=
NM_001177875.1:c.1779C>T	NP_001171346.1:p.Thr593=
NR_130776.1:n.354+13691G>A
NM_000439.5:c.1920C>T MANE Select	NP_000430.3:p.Thr640=
NM_001177875.2:c.1779C>T	NP_001171346.1:p.Thr593=