Canonical Allele Identifier: CA360483253

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96416105-C-A
• MyVariant Identifiers: chr5:g.95751809C>A (hg19) ; chr5:g.96416105C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416105C>A , CM000667.2:g.96416105C>A	GRCh38
NC_000005.9:g.95751809C>A , CM000667.1:g.95751809C>A	GRCh37
NC_000005.8:g.95777565C>A	NCBI36
NG_021161.1:g.22177G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.637G>T MANE Select	ENSP00000308024.2:p.Ala213Ser
ENST00000311106.7:c.637G>T	ENSP00000308024.2:p.Ala213Ser
ENST00000508626.5:c.496G>T	ENSP00000421600.1:p.Ala166Ser
NM_000439.4:c.637G>T	NP_000430.3:p.Ala213Ser
NM_001177875.1:c.496G>T	NP_001171346.1:p.Ala166Ser
NR_130776.1:n.354+36453C>A
NM_000439.5:c.637G>T MANE Select	NP_000430.3:p.Ala213Ser
NM_001177875.2:c.496G>T	NP_001171346.1:p.Ala166Ser