Canonical Allele Identifier: CA368594751

Gene: SERPINE1

Linked Data

• ClinVar Variation Id: 1299082
• ClinVar RCV Id: RCV001727412
• dbSNP Id: rs1412176159
• gnomAD v2: 7-100771823-C-T
• gnomAD v3: 7-101128542-C-T
• gnomAD v4: 7-101128542-C-T
• MyVariant Identifiers: chr7:g.100771823C>T (hg19) ; chr7:g.101128542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.101128542C>T , CM000669.2:g.101128542C>T	GRCh38
NC_000007.13:g.100771823C>T , CM000669.1:g.100771823C>T	GRCh37
NC_000007.12:g.100558543C>T	NCBI36
NG_013213.1:g.6445C>T , LRG_597:g.6445C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223095.5:c.149C>T MANE Select	ENSP00000223095.4:p.Ser50Phe
ENST00000223095.4:c.149C>T	ENSP00000223095.4:p.Ser50Phe
NM_000602.4:c.149C>T , LRG_597t1:c.149C>T	NP_000593.1:p.Ser50Phe
NM_000602.5:c.149C>T MANE Select	NP_000593.1:p.Ser50Phe
NM_001386456.1:c.-32-72C>T	NP_001373385.1:n.-32-72C>T
NM_001386457.1:c.149C>T	NP_001373386.1:p.Ser50Phe
NM_001386458.1:c.149C>T	NP_001373387.1:p.Ser50Phe
NM_001386459.1:c.149C>T	NP_001373388.1:p.Ser50Phe
NM_001386460.1:c.149C>T	NP_001373389.1:p.Ser50Phe
NM_001386461.1:c.149C>T	NP_001373390.1:p.Ser50Phe
NM_001386462.1:c.-53C>T	NP_001373391.1:n.-53C>T
NM_001386463.1:c.143C>T	NP_001373392.1:p.Ser48Phe
NM_001386464.1:c.149C>T	NP_001373393.1:p.Ser50Phe
NM_001386465.1:c.149C>T	NP_001373394.1:p.Ser50Phe
NM_001386466.1:c.149C>T	NP_001373395.1:p.Ser50Phe