Canonical Allele Identifier: CA2578366399

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429380-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429380T>A , CM000667.2:g.96429380T>A	GRCh38
NC_000005.9:g.95765084T>A , CM000667.1:g.95765084T>A	GRCh37
NC_000005.8:g.95790840T>A	NCBI36
NG_021161.1:g.8902A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-63A>T MANE Select	ENSP00000308024.2:n.181-63A>T
ENST00000311106.7:c.181-63A>T	ENSP00000308024.2:n.181-63A>T
ENST00000508626.5:c.40-63A>T	ENSP00000421600.1:n.40-63A>T
ENST00000509190.1:c.181-63A>T	ENSP00000427294.1:n.181-63A>T
NM_000439.4:c.181-63A>T	NP_000430.3:n.181-63A>T
NM_001177875.1:c.40-63A>T	NP_001171346.1:n.40-63A>T
NR_130776.1:n.354+49728T>A
NM_000439.5:c.181-63A>T MANE Select	NP_000430.3:n.181-63A>T
NM_001177875.2:c.40-63A>T	NP_001171346.1:n.40-63A>T