Canonical Allele Identifier: CA445496496

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95751759A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416055A>C , CM000667.2:g.96416055A>C	GRCh38
NC_000005.9:g.95751759A>C , CM000667.1:g.95751759A>C	GRCh37
NC_000005.8:g.95777515A>C	NCBI36
NG_021161.1:g.22227T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.687T>G MANE Select	ENSP00000308024.2:p.Val229=
ENST00000311106.7:c.687T>G	ENSP00000308024.2:p.Val229=
ENST00000508626.5:c.546T>G	ENSP00000421600.1:p.Val182=
NM_000439.4:c.687T>G	NP_000430.3:p.Val229=
NM_001177875.1:c.546T>G	NP_001171346.1:p.Val182=
NR_130776.1:n.354+36403A>C
NM_000439.5:c.687T>G MANE Select	NP_000430.3:p.Val229=
NM_001177875.2:c.546T>G	NP_001171346.1:p.Val182=