Canonical Allele Identifier: CA3350555

Gene: PCSK1

Linked Data

• ClinVar Variation Id: 2636122
• ClinVar RCV Id: RCV003393083
• dbSNP Id: rs371368465
• ExAC: 5:95764976 G / A
• gnomAD v2: 5-95764976-G-A
• gnomAD v4: 5-96429272-G-A
• MyVariant Identifiers: chr5:g.95764976G>A (hg19) ; chr5:g.96429272G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429272G>A , CM000667.2:g.96429272G>A	GRCh38
NC_000005.9:g.95764976G>A , CM000667.1:g.95764976G>A	GRCh37
NC_000005.8:g.95790732G>A	NCBI36
NG_021161.1:g.9010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.226C>T MANE Select	ENSP00000308024.2:p.Pro76Ser
ENST00000311106.7:c.226C>T	ENSP00000308024.2:p.Pro76Ser
ENST00000508626.5:c.85C>T	ENSP00000421600.1:p.Pro29Ser
ENST00000509190.1:c.226C>T	ENSP00000427294.1:p.Pro76Ser
NM_000439.4:c.226C>T	NP_000430.3:p.Pro76Ser
NM_001177875.1:c.85C>T	NP_001171346.1:p.Pro29Ser
NR_130776.1:n.354+49620G>A
NM_000439.5:c.226C>T MANE Select	NP_000430.3:p.Pro76Ser
NM_001177875.2:c.85C>T	NP_001171346.1:p.Pro29Ser