Canonical Allele Identifier: CA360476905

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95728898C>T (hg19) ; chr5:g.96393194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96393194C>T , CM000667.2:g.96393194C>T	GRCh38
NC_000005.9:g.95728898C>T , CM000667.1:g.95728898C>T	GRCh37
NC_000005.8:g.95754654C>T	NCBI36
NG_021161.1:g.45088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.2069G>A MANE Select	ENSP00000308024.2:p.Ser690Asn
ENST00000311106.7:c.2069G>A	ENSP00000308024.2:p.Ser690Asn
ENST00000508626.5:c.1928G>A	ENSP00000421600.1:p.Ser643Asn
ENST00000513085.1:n.1212G>A
NM_000439.4:c.2069G>A	NP_000430.3:p.Ser690Asn
NM_001177875.1:c.1928G>A	NP_001171346.1:p.Ser643Asn
NR_130776.1:n.354+13542C>T
NM_000439.5:c.2069G>A MANE Select	NP_000430.3:p.Ser690Asn
NM_001177875.2:c.1928G>A	NP_001171346.1:p.Ser643Asn