Canonical Allele Identifier: CA10627879
Gene: SERPINE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 358328
ClinVar RCV Id: RCV000373746
dbSNP Id: rs886061839

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.101138597T>C , CM000669.2:g.101138597T>C GRCh38
NC_000007.13:g.100781878T>C , CM000669.1:g.100781878T>C GRCh37
NC_000007.12:g.100568598T>C NCBI36
NG_013213.1:g.16500T>C , LRG_597:g.16500T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000223095.5:c.*1155T>C MANE Select ENSP00000223095.4:n.*1155T>C
ENST00000223095.4:c.*1155T>C ENSP00000223095.4:n.*1155T>C
NM_000602.4:c.*1155T>C , LRG_597t1:c.*1155T>C NP_000593.1:n.*1155T>C
NM_000602.5:c.*1155T>C MANE Select NP_000593.1:n.*1155T>C
NM_001386456.1:c.*1155T>C NP_001373385.1:n.*1155T>C
NM_001386457.1:c.*1166T>C NP_001373386.1:n.*1166T>C
NM_001386458.1:c.*1155T>C NP_001373387.1:n.*1155T>C
NM_001386459.1:c.*500T>C NP_001373388.1:n.*500T>C
NM_001386460.1:c.*500T>C NP_001373389.1:n.*500T>C
NM_001386461.1:c.*500T>C NP_001373390.1:n.*500T>C
NM_001386462.1:c.*1155T>C NP_001373391.1:n.*1155T>C
NM_001386463.1:c.*1155T>C NP_001373392.1:n.*1155T>C
NM_001386464.1:c.*1246T>C NP_001373393.1:n.*1246T>C
NM_001386465.1:c.*1155T>C NP_001373394.1:n.*1155T>C
NM_001386466.1:c.*1155T>C NP_001373395.1:n.*1155T>C