Canonical Allele Identifier: CA445498858

Gene: PCSK1

Linked Data

• dbSNP Id: rs1561378622
• gnomAD v4: 5-96429222-A-G
• MyVariant Identifiers: chr5:g.95764926A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429222A>G , CM000667.2:g.96429222A>G	GRCh38
NC_000005.9:g.95764926A>G , CM000667.1:g.95764926A>G	GRCh37
NC_000005.8:g.95790682A>G	NCBI36
NG_021161.1:g.9060T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.276T>C MANE Select	ENSP00000308024.2:p.Asp92=
ENST00000311106.7:c.276T>C	ENSP00000308024.2:p.Asp92=
ENST00000508626.5:c.135T>C	ENSP00000421600.1:p.Asp45=
ENST00000509190.1:c.276T>C	ENSP00000427294.1:p.Asp92=
NM_000439.4:c.276T>C	NP_000430.3:p.Asp92=
NM_001177875.1:c.135T>C	NP_001171346.1:p.Asp45=
NR_130776.1:n.354+49570A>G
NM_000439.5:c.276T>C MANE Select	NP_000430.3:p.Asp92=
NM_001177875.2:c.135T>C	NP_001171346.1:p.Asp45=