Canonical Allele Identifier: CA445498903

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429306-A-G
• MyVariant Identifiers: chr5:g.95765010A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429306A>G , CM000667.2:g.96429306A>G	GRCh38
NC_000005.9:g.95765010A>G , CM000667.1:g.95765010A>G	GRCh37
NC_000005.8:g.95790766A>G	NCBI36
NG_021161.1:g.8976T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.192T>C MANE Select	ENSP00000308024.2:p.Leu64=
ENST00000311106.7:c.192T>C	ENSP00000308024.2:p.Leu64=
ENST00000508626.5:c.51T>C	ENSP00000421600.1:p.Leu17=
ENST00000509190.1:c.192T>C	ENSP00000427294.1:p.Leu64=
NM_000439.4:c.192T>C	NP_000430.3:p.Leu64=
NM_001177875.1:c.51T>C	NP_001171346.1:p.Leu17=
NR_130776.1:n.354+49654A>G
NM_000439.5:c.192T>C MANE Select	NP_000430.3:p.Leu64=
NM_001177875.2:c.51T>C	NP_001171346.1:p.Leu17=