Canonical Allele Identifier: CA445719802

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96393184-G-A
• MyVariant Identifiers: chr5:g.95728888G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96393184G>A , CM000667.2:g.96393184G>A	GRCh38
NC_000005.9:g.95728888G>A , CM000667.1:g.95728888G>A	GRCh37
NC_000005.8:g.95754644G>A	NCBI36
NG_021161.1:g.45098C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.2079C>T MANE Select	ENSP00000308024.2:p.Leu693=
ENST00000311106.7:c.2079C>T	ENSP00000308024.2:p.Leu693=
ENST00000508626.5:c.1938C>T	ENSP00000421600.1:p.Leu646=
ENST00000513085.1:n.1222C>T
NM_000439.4:c.2079C>T	NP_000430.3:p.Leu693=
NM_001177875.1:c.1938C>T	NP_001171346.1:p.Leu646=
NR_130776.1:n.354+13532G>A
NM_000439.5:c.2079C>T MANE Select	NP_000430.3:p.Leu693=
NM_001177875.2:c.1938C>T	NP_001171346.1:p.Leu646=