Canonical Allele Identifier: CA360483150

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95751788C>A (hg19) ; chr5:g.96416084C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416084C>A , CM000667.2:g.96416084C>A	GRCh38
NC_000005.9:g.95751788C>A , CM000667.1:g.95751788C>A	GRCh37
NC_000005.8:g.95777544C>A	NCBI36
NG_021161.1:g.22198G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.658G>T MANE Select	ENSP00000308024.2:p.Ala220Ser
ENST00000311106.7:c.658G>T	ENSP00000308024.2:p.Ala220Ser
ENST00000508626.5:c.517G>T	ENSP00000421600.1:p.Ala173Ser
NM_000439.4:c.658G>T	NP_000430.3:p.Ala220Ser
NM_001177875.1:c.517G>T	NP_001171346.1:p.Ala173Ser
NR_130776.1:n.354+36432C>A
NM_000439.5:c.658G>T MANE Select	NP_000430.3:p.Ala220Ser
NM_001177875.2:c.517G>T	NP_001171346.1:p.Ala173Ser