Canonical Allele Identifier: CA360479211

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95734740T>G (hg19) ; chr5:g.96399036T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399036T>G , CM000667.2:g.96399036T>G	GRCh38
NC_000005.9:g.95734740T>G , CM000667.1:g.95734740T>G	GRCh37
NC_000005.8:g.95760496T>G	NCBI36
NG_021161.1:g.39246A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1431A>C MANE Select	ENSP00000308024.2:p.Arg477Ser
ENST00000311106.7:c.1431A>C	ENSP00000308024.2:p.Arg477Ser
ENST00000508626.5:c.1290A>C	ENSP00000421600.1:p.Arg430Ser
ENST00000513085.1:n.574A>C
NM_000439.4:c.1431A>C	NP_000430.3:p.Arg477Ser
NM_001177875.1:c.1290A>C	NP_001171346.1:p.Arg430Ser
NR_130776.1:n.354+19384T>G
NM_000439.5:c.1431A>C MANE Select	NP_000430.3:p.Arg477Ser
NM_001177875.2:c.1290A>C	NP_001171346.1:p.Arg430Ser