Canonical Allele Identifier: CA368595437
Community Standard Title: NM_000602.5(SERPINE1):c.253A>G (p.Met85Val)
Gene: SERPINE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.101128646A>G , CM000669.2:g.101128646A>G GRCh38
NC_000007.13:g.100771927A>G , CM000669.1:g.100771927A>G GRCh37
NC_000007.12:g.100558647A>G NCBI36
NG_013213.1:g.6549A>G , LRG_597:g.6549A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000602.5:c.253A>G MANE Select NP_000593.1:p.Met85Val
ENST00000223095.5:c.253A>G MANE Select ENSP00000223095.4:p.Met85Val
NM_000602.4:c.253A>G , LRG_597t1:c.253A>G NP_000593.1:p.Met85Val
NM_001386456.1:c.1A>G NP_001373385.1:p.Met1Val
NM_001386457.1:c.253A>G NP_001373386.1:p.Met85Val
NM_001386458.1:c.253A>G NP_001373387.1:p.Met85Val
NM_001386459.1:c.253A>G NP_001373388.1:p.Met85Val
NM_001386460.1:c.253A>G NP_001373389.1:p.Met85Val
NM_001386461.1:c.253A>G NP_001373390.1:p.Met85Val
NM_001386462.1:c.52A>G NP_001373391.1:p.Met18Val
NM_001386463.1:c.247A>G NP_001373392.1:p.Met83Val
NM_001386464.1:c.253A>G NP_001373393.1:p.Met85Val
NM_001386465.1:c.253A>G NP_001373394.1:p.Met85Val
NM_001386466.1:c.253A>G NP_001373395.1:p.Met85Val
ENST00000223095.4:c.253A>G ENSP00000223095.4:p.Met85Val