Canonical Allele Identifier: CA445719858
Gene: PCSK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.95728957G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393253G>A , CM000667.2:g.96393253G>A GRCh38
NC_000005.9:g.95728957G>A , CM000667.1:g.95728957G>A GRCh37
NC_000005.8:g.95754713G>A NCBI36
NG_021161.1:g.45029C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.2010C>T MANE Select ENSP00000308024.2:p.Leu670=
ENST00000311106.7:c.2010C>T ENSP00000308024.2:p.Leu670=
ENST00000508626.5:c.1869C>T ENSP00000421600.1:p.Leu623=
ENST00000513085.1:n.1153C>T
NM_000439.4:c.2010C>T NP_000430.3:p.Leu670=
NM_001177875.1:c.1869C>T NP_001171346.1:p.Leu623=
NR_130776.1:n.354+13601G>A
NM_000439.5:c.2010C>T MANE Select NP_000430.3:p.Leu670=
NM_001177875.2:c.1869C>T NP_001171346.1:p.Leu623=