Canonical Allele Identifier: CA1565401594

Gene: PCSK1

Linked Data

• dbSNP Id: rs1759965321
• gnomAD v4: 5-96392132-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96392139dup , CM000667.2:g.96392139dup	GRCh38
NC_000005.9:g.95727843dup , CM000667.1:g.95727843dup	GRCh37
NC_000005.8:g.95753599dup	NCBI36
NG_021161.1:g.46149dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.*868dup MANE Select	ENSP00000308024.2:n.*868dup
ENST00000311106.7:c.*868dup	ENSP00000308024.2:n.*868dup
NM_000439.4:c.*868dup	NP_000430.3:n.*868dup
NM_001177875.1:c.*868dup	NP_001171346.1:n.*868dup
NR_130776.1:n.354+12487dup
NM_000439.5:c.*868dup MANE Select	NP_000430.3:n.*868dup
NM_001177875.2:c.*868dup	NP_001171346.1:n.*868dup