Canonical Allele Identifier: CA445491664
Gene: PCSK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.95734737G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96399033G>T , CM000667.2:g.96399033G>T GRCh38
NC_000005.9:g.95734737G>T , CM000667.1:g.95734737G>T GRCh37
NC_000005.8:g.95760493G>T NCBI36
NG_021161.1:g.39249C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1434C>A MANE Select ENSP00000308024.2:p.Ala478=
ENST00000311106.7:c.1434C>A ENSP00000308024.2:p.Ala478=
ENST00000508626.5:c.1293C>A ENSP00000421600.1:p.Ala431=
ENST00000513085.1:n.577C>A
NM_000439.4:c.1434C>A NP_000430.3:p.Ala478=
NM_001177875.1:c.1293C>A NP_001171346.1:p.Ala431=
NR_130776.1:n.354+19381G>T
NM_000439.5:c.1434C>A MANE Select NP_000430.3:p.Ala478=
NM_001177875.2:c.1293C>A NP_001171346.1:p.Ala431=