Canonical Allele Identifier: CA1565418162

Gene: PCSK1

Linked Data

• dbSNP Id: rs1761421148
• gnomAD v4: 5-96429426-C-CCTGGTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429430_96429436dup , CM000667.2:g.96429430_96429436dup	GRCh38
NC_000005.9:g.95765134_95765140dup , CM000667.1:g.95765134_95765140dup	GRCh37
NC_000005.8:g.95790890_95790896dup	NCBI36
NG_021161.1:g.8849_8855dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-116_181-110dup MANE Select	ENSP00000308024.2:n.181-116_181-110dup
ENST00000311106.7:c.181-116_181-110dup	ENSP00000308024.2:n.181-116_181-110dup
ENST00000508626.5:c.40-116_40-110dup	ENSP00000421600.1:n.40-116_40-110dup
ENST00000509190.1:c.181-116_181-110dup	ENSP00000427294.1:n.181-116_181-110dup
NM_000439.4:c.181-116_181-110dup	NP_000430.3:n.181-116_181-110dup
NM_001177875.1:c.40-116_40-110dup	NP_001171346.1:n.40-116_40-110dup
NR_130776.1:n.354+49778_354+49784dup
NM_000439.5:c.181-116_181-110dup MANE Select	NP_000430.3:n.181-116_181-110dup
NM_001177875.2:c.40-116_40-110dup	NP_001171346.1:n.40-116_40-110dup