Canonical Allele Identifier: CA815906907

Gene: PCSK1

Linked Data

• dbSNP Id: rs920428707
• gnomAD v4: 5-96392217-C-A
• MyVariant Identifiers: chr5:g.95727921C>A (hg19) ; chr5:g.96392217C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96392217C>A , CM000667.2:g.96392217C>A	GRCh38
NC_000005.9:g.95727921C>A , CM000667.1:g.95727921C>A	GRCh37
NC_000005.8:g.95753677C>A	NCBI36
NG_021161.1:g.46065G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.*784G>T MANE Select	ENSP00000308024.2:n.*784G>T
ENST00000311106.7:c.*784G>T	ENSP00000308024.2:n.*784G>T
NM_000439.4:c.*784G>T	NP_000430.3:n.*784G>T
NM_001177875.1:c.*784G>T	NP_001171346.1:n.*784G>T
NR_130776.1:n.354+12565C>A
NM_000439.5:c.*784G>T MANE Select	NP_000430.3:n.*784G>T
NM_001177875.2:c.*784G>T	NP_001171346.1:n.*784G>T