Canonical Allele Identifier: CA360479010

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95734660A>G (hg19) ; chr5:g.96398956A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96398956A>G , CM000667.2:g.96398956A>G	GRCh38
NC_000005.9:g.95734660A>G , CM000667.1:g.95734660A>G	GRCh37
NC_000005.8:g.95760416A>G	NCBI36
NG_021161.1:g.39326T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1511T>C MANE Select	ENSP00000308024.2:p.Leu504Pro
ENST00000311106.7:c.1511T>C	ENSP00000308024.2:p.Leu504Pro
ENST00000508626.5:c.1370T>C	ENSP00000421600.1:p.Leu457Pro
ENST00000513085.1:n.654T>C
NM_000439.4:c.1511T>C	NP_000430.3:p.Leu504Pro
NM_001177875.1:c.1370T>C	NP_001171346.1:p.Leu457Pro
NR_130776.1:n.354+19304A>G
NM_000439.5:c.1511T>C MANE Select	NP_000430.3:p.Leu504Pro
NM_001177875.2:c.1370T>C	NP_001171346.1:p.Leu457Pro