Canonical Allele Identifier: CA360485191

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95764950A>C (hg19) ; chr5:g.96429246A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429246A>C , CM000667.2:g.96429246A>C	GRCh38
NC_000005.9:g.95764950A>C , CM000667.1:g.95764950A>C	GRCh37
NC_000005.8:g.95790706A>C	NCBI36
NG_021161.1:g.9036T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.252T>G MANE Select	ENSP00000308024.2:p.Phe84Leu
ENST00000311106.7:c.252T>G	ENSP00000308024.2:p.Phe84Leu
ENST00000508626.5:c.111T>G	ENSP00000421600.1:p.Phe37Leu
ENST00000509190.1:c.252T>G	ENSP00000427294.1:p.Phe84Leu
NM_000439.4:c.252T>G	NP_000430.3:p.Phe84Leu
NM_001177875.1:c.111T>G	NP_001171346.1:p.Phe37Leu
NR_130776.1:n.354+49594A>C
NM_000439.5:c.252T>G MANE Select	NP_000430.3:p.Phe84Leu
NM_001177875.2:c.111T>G	NP_001171346.1:p.Phe37Leu