Canonical Allele Identifier: CA2573320819

Gene: SERPINE1

Linked Data

• ClinVar Variation Id: 1710298
• ClinVar RCV Id: RCV002291248
• MutSpliceDB: CA2573320819

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.101137402C>G , CM000669.2:g.101137402C>G	GRCh38
NC_000007.13:g.100780683C>G , CM000669.1:g.100780683C>G	GRCh37
NC_000007.12:g.100567403C>G	NCBI36
NG_013213.1:g.15305C>G , LRG_597:g.15305C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223095.5:c.1172-3C>G MANE Select	ENSP00000223095.4:n.1172-3C>G
ENST00000223095.4:c.1172-3C>G	ENSP00000223095.4:n.1172-3C>G
NM_000602.4:c.1172-3C>G , LRG_597t1:c.1172-3C>G	NP_000593.1:n.1172-3C>G
NM_000602.5:c.1172-3C>G MANE Select	NP_000593.1:n.1172-3C>G
NM_001386456.1:c.920-3C>G	NP_001373385.1:n.920-3C>G
NM_001386457.1:c.1036-3C>G	NP_001373386.1:n.1036-3C>G
NM_001386458.1:c.1193-3C>G	NP_001373387.1:n.1193-3C>G
NM_001386459.1:c.1172-3C>G	NP_001373388.1:n.1172-3C>G
NM_001386460.1:c.1171+318C>G	NP_001373389.1:n.1171+318C>G
NM_001386461.1:c.1088-421C>G	NP_001373390.1:n.1088-421C>G
NM_001386462.1:c.971-3C>G	NP_001373391.1:n.971-3C>G
NM_001386463.1:c.1166-3C>G	NP_001373392.1:n.1166-3C>G
NM_001386464.1:c.*51C>G	NP_001373393.1:n.*51C>G
NM_001386465.1:c.1187-3C>G	NP_001373394.1:n.1187-3C>G
NM_001386466.1:c.1196-3C>G	NP_001373395.1:n.1196-3C>G