Canonical Allele Identifier: CA360476878

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96393182-T-C
• MyVariant Identifiers: chr5:g.95728886T>C (hg19) ; chr5:g.96393182T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96393182T>C , CM000667.2:g.96393182T>C	GRCh38
NC_000005.9:g.95728886T>C , CM000667.1:g.95728886T>C	GRCh37
NC_000005.8:g.95754642T>C	NCBI36
NG_021161.1:g.45100A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.2081A>G MANE Select	ENSP00000308024.2:p.Asn694Ser
ENST00000311106.7:c.2081A>G	ENSP00000308024.2:p.Asn694Ser
ENST00000508626.5:c.1940A>G	ENSP00000421600.1:p.Asn647Ser
ENST00000513085.1:n.1224A>G
NM_000439.4:c.2081A>G	NP_000430.3:p.Asn694Ser
NM_001177875.1:c.1940A>G	NP_001171346.1:p.Asn647Ser
NR_130776.1:n.354+13530T>C
NM_000439.5:c.2081A>G MANE Select	NP_000430.3:p.Asn694Ser
NM_001177875.2:c.1940A>G	NP_001171346.1:p.Asn647Ser