Canonical Allele Identifier: CA368611989
Community Standard Title: NM_000602.5(SERPINE1):c.1172-2A>C
Gene: SERPINE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.101137403A>C , CM000669.2:g.101137403A>C GRCh38
NC_000007.13:g.100780684A>C , CM000669.1:g.100780684A>C GRCh37
NC_000007.12:g.100567404A>C NCBI36
NG_013213.1:g.15306A>C , LRG_597:g.15306A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000602.5:c.1172-2A>C MANE Select NP_000593.1:n.1172-2A>C
ENST00000223095.5:c.1172-2A>C MANE Select ENSP00000223095.4:n.1172-2A>C
NM_000602.4:c.1172-2A>C , LRG_597t1:c.1172-2A>C NP_000593.1:n.1172-2A>C
NM_001386456.1:c.920-2A>C NP_001373385.1:n.920-2A>C
NM_001386457.1:c.1036-2A>C NP_001373386.1:n.1036-2A>C
NM_001386458.1:c.1193-2A>C NP_001373387.1:n.1193-2A>C
NM_001386459.1:c.1172-2A>C NP_001373388.1:n.1172-2A>C
NM_001386460.1:c.1171+319A>C NP_001373389.1:n.1171+319A>C
NM_001386461.1:c.1088-420A>C NP_001373390.1:n.1088-420A>C
NM_001386462.1:c.971-2A>C NP_001373391.1:n.971-2A>C
NM_001386463.1:c.1166-2A>C NP_001373392.1:n.1166-2A>C
NM_001386464.1:c.*52A>C NP_001373393.1:n.*52A>C
NM_001386465.1:c.1187-2A>C NP_001373394.1:n.1187-2A>C
NM_001386466.1:c.1196-2A>C NP_001373395.1:n.1196-2A>C
ENST00000223095.4:c.1172-2A>C ENSP00000223095.4:n.1172-2A>C