Canonical Allele Identifier: CA10627850
Gene: SERPINE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 358313
ClinVar RCV Id: RCV000337075
dbSNP Id: rs750289183

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.101133839T>G , CM000669.2:g.101133839T>G GRCh38
NC_000007.13:g.100777120T>G , CM000669.1:g.100777120T>G GRCh37
NC_000007.12:g.100563840T>G NCBI36
NG_013213.1:g.11742T>G , LRG_597:g.11742T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000223095.5:c.845T>G MANE Select ENSP00000223095.4:p.Ile282Ser
ENST00000223095.4:c.845T>G ENSP00000223095.4:p.Ile282Ser
NM_000602.4:c.845T>G , LRG_597t1:c.845T>G NP_000593.1:p.Ile282Ser
NM_000602.5:c.845T>G MANE Select NP_000593.1:p.Ile282Ser
NM_001386456.1:c.593T>G NP_001373385.1:p.Ile198Ser
NM_001386457.1:c.845T>G NP_001373386.1:p.Ile282Ser
NM_001386458.1:c.845T>G NP_001373387.1:p.Ile282Ser
NM_001386459.1:c.845T>G NP_001373388.1:p.Ile282Ser
NM_001386460.1:c.845T>G NP_001373389.1:p.Ile282Ser
NM_001386461.1:c.845T>G NP_001373390.1:p.Ile282Ser
NM_001386462.1:c.644T>G NP_001373391.1:p.Ile215Ser
NM_001386463.1:c.839T>G NP_001373392.1:p.Ile280Ser
NM_001386464.1:c.845T>G NP_001373393.1:p.Ile282Ser
NM_001386465.1:c.845T>G NP_001373394.1:p.Ile282Ser
NM_001386466.1:c.869T>G NP_001373395.1:p.Ile290Ser