Canonical Allele Identifier: CA445498868

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429240-G-A
• COSMIC: COSM3920515
• MyVariant Identifiers: chr5:g.95764944G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429240G>A , CM000667.2:g.96429240G>A	GRCh38
NC_000005.9:g.95764944G>A , CM000667.1:g.95764944G>A	GRCh37
NC_000005.8:g.95790700G>A	NCBI36
NG_021161.1:g.9042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.258C>T MANE Select	ENSP00000308024.2:p.Ile86=
ENST00000311106.7:c.258C>T	ENSP00000308024.2:p.Ile86=
ENST00000508626.5:c.117C>T	ENSP00000421600.1:p.Ile39=
ENST00000509190.1:c.258C>T	ENSP00000427294.1:p.Ile86=
NM_000439.4:c.258C>T	NP_000430.3:p.Ile86=
NM_001177875.1:c.117C>T	NP_001171346.1:p.Ile39=
NR_130776.1:n.354+49588G>A
NM_000439.5:c.258C>T MANE Select	NP_000430.3:p.Ile86=
NM_001177875.2:c.117C>T	NP_001171346.1:p.Ile39=