Canonical Allele Identifier: CA3350562

Gene: PCSK1

Linked Data

• dbSNP Id: rs748592986
• ExAC: 5:95765039 T / A
• gnomAD v2: 5-95765039-T-A
• gnomAD v4: 5-96429335-T-A
• MyVariant Identifiers: chr5:g.95765039T>A (hg19) ; chr5:g.96429335T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429335T>A , CM000667.2:g.96429335T>A	GRCh38
NC_000005.9:g.95765039T>A , CM000667.1:g.95765039T>A	GRCh37
NC_000005.8:g.95790795T>A	NCBI36
NG_021161.1:g.8947A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-18A>T MANE Select	ENSP00000308024.2:n.181-18A>T
ENST00000311106.7:c.181-18A>T	ENSP00000308024.2:n.181-18A>T
ENST00000508626.5:c.40-18A>T	ENSP00000421600.1:n.40-18A>T
ENST00000509190.1:c.181-18A>T	ENSP00000427294.1:n.181-18A>T
NM_000439.4:c.181-18A>T	NP_000430.3:n.181-18A>T
NM_001177875.1:c.40-18A>T	NP_001171346.1:n.40-18A>T
NR_130776.1:n.354+49683T>A
NM_000439.5:c.181-18A>T MANE Select	NP_000430.3:n.181-18A>T
NM_001177875.2:c.40-18A>T	NP_001171346.1:n.40-18A>T