Canonical Allele Identifier: CA360478988

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95734651A>C (hg19) ; chr5:g.96398947A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96398947A>C , CM000667.2:g.96398947A>C	GRCh38
NC_000005.9:g.95734651A>C , CM000667.1:g.95734651A>C	GRCh37
NC_000005.8:g.95760407A>C	NCBI36
NG_021161.1:g.39335T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1520T>G MANE Select	ENSP00000308024.2:p.Val507Gly
ENST00000311106.7:c.1520T>G	ENSP00000308024.2:p.Val507Gly
ENST00000508626.5:c.1379T>G	ENSP00000421600.1:p.Val460Gly
ENST00000513085.1:n.663T>G
NM_000439.4:c.1520T>G	NP_000430.3:p.Val507Gly
NM_001177875.1:c.1379T>G	NP_001171346.1:p.Val460Gly
NR_130776.1:n.354+19295A>C
NM_000439.5:c.1520T>G MANE Select	NP_000430.3:p.Val507Gly
NM_001177875.2:c.1379T>G	NP_001171346.1:p.Val460Gly