Canonical Allele Identifier: CA2674667118

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429090-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429090T>A , CM000667.2:g.96429090T>A	GRCh38
NC_000005.9:g.95764794T>A , CM000667.1:g.95764794T>A	GRCh37
NC_000005.8:g.95790550T>A	NCBI36
NG_021161.1:g.9192A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+123A>T MANE Select	ENSP00000308024.2:n.285+123A>T
ENST00000311106.7:c.285+123A>T	ENSP00000308024.2:n.285+123A>T
ENST00000508626.5:c.144+123A>T	ENSP00000421600.1:n.144+123A>T
ENST00000509190.1:c.285+123A>T	ENSP00000427294.1:n.285+123A>T
NM_000439.4:c.285+123A>T	NP_000430.3:n.285+123A>T
NM_001177875.1:c.144+123A>T	NP_001171346.1:n.144+123A>T
NR_130776.1:n.354+49438T>A
NM_000439.5:c.285+123A>T MANE Select	NP_000430.3:n.285+123A>T
NM_001177875.2:c.144+123A>T	NP_001171346.1:n.144+123A>T