Canonical Allele Identifier: CA360476871

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95728883A>T (hg19) ; chr5:g.96393179A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96393179A>T , CM000667.2:g.96393179A>T	GRCh38
NC_000005.9:g.95728883A>T , CM000667.1:g.95728883A>T	GRCh37
NC_000005.8:g.95754639A>T	NCBI36
NG_021161.1:g.45103T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.2084T>A MANE Select	ENSP00000308024.2:p.Ile695Asn
ENST00000311106.7:c.2084T>A	ENSP00000308024.2:p.Ile695Asn
ENST00000508626.5:c.1943T>A	ENSP00000421600.1:p.Ile648Asn
ENST00000513085.1:n.1227T>A
NM_000439.4:c.2084T>A	NP_000430.3:p.Ile695Asn
NM_001177875.1:c.1943T>A	NP_001171346.1:p.Ile648Asn
NR_130776.1:n.354+13527A>T
NM_000439.5:c.2084T>A MANE Select	NP_000430.3:p.Ile695Asn
NM_001177875.2:c.1943T>A	NP_001171346.1:p.Ile648Asn