Canonical Allele Identifier: CA360477139

Gene: PCSK1

Linked Data

• dbSNP Id: rs1455769735
• gnomAD v2: 5-95729010-C-A
• gnomAD v4: 5-96393306-C-A
• MyVariant Identifiers: chr5:g.95729010C>A (hg19) ; chr5:g.96393306C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96393306C>A , CM000667.2:g.96393306C>A	GRCh38
NC_000005.9:g.95729010C>A , CM000667.1:g.95729010C>A	GRCh37
NC_000005.8:g.95754766C>A	NCBI36
NG_021161.1:g.44976G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1957G>T MANE Select	ENSP00000308024.2:p.Gly653Cys
ENST00000311106.7:c.1957G>T	ENSP00000308024.2:p.Gly653Cys
ENST00000508626.5:c.1816G>T	ENSP00000421600.1:p.Gly606Cys
ENST00000513085.1:n.1100G>T
NM_000439.4:c.1957G>T	NP_000430.3:p.Gly653Cys
NM_001177875.1:c.1816G>T	NP_001171346.1:p.Gly606Cys
NR_130776.1:n.354+13654C>A
NM_000439.5:c.1957G>T MANE Select	NP_000430.3:p.Gly653Cys
NM_001177875.2:c.1816G>T	NP_001171346.1:p.Gly606Cys