Canonical Allele Identifier: CA122933489

Gene: PCSK1

Linked Data

• dbSNP Id: rs545473840
• gnomAD v2: 5-95762523-C-T
• gnomAD v3: 5-96426819-C-T
• gnomAD v4: 5-96426819-C-T
• MyVariant Identifiers: chr5:g.95762523C>T (hg19) ; chr5:g.96426819C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96426819C>T , CM000667.2:g.96426819C>T	GRCh38
NC_000005.9:g.95762523C>T , CM000667.1:g.95762523C>T	GRCh37
NC_000005.8:g.95788279C>T	NCBI36
NG_021161.1:g.11463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.286-889G>A MANE Select	ENSP00000308024.2:n.286-889G>A
ENST00000311106.7:c.286-889G>A	ENSP00000308024.2:n.286-889G>A
ENST00000508626.5:c.145-889G>A	ENSP00000421600.1:n.145-889G>A
ENST00000509190.1:c.286-889G>A	ENSP00000427294.1:n.286-889G>A
NM_000439.4:c.286-889G>A	NP_000430.3:n.286-889G>A
NM_001177875.1:c.145-889G>A	NP_001171346.1:n.145-889G>A
NR_130776.1:n.354+47167C>T
NM_000439.5:c.286-889G>A MANE Select	NP_000430.3:n.286-889G>A
NM_001177875.2:c.145-889G>A	NP_001171346.1:n.145-889G>A