Canonical Allele Identifier: CA87839375
Gene: SERPINI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.167824692A>G , CM000665.2:g.167824692A>G GRCh38
NC_000003.11:g.167542480A>G , CM000665.1:g.167542480A>G GRCh37
NC_000003.10:g.169025174A>G NCBI36
NG_008217.1:g.94049A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001122752.2:c.1156+130A>G MANE Select NP_001116224.1:n.1156+130A>G
ENST00000446050.7:c.1156+130A>G MANE Select ENSP00000397373.2:n.1156+130A>G
NM_001122752.1:c.1156+130A>G NP_001116224.1:n.1156+130A>G
NM_005025.4:c.1156+130A>G NP_005016.1:n.1156+130A>G
NM_005025.5:c.1156+130A>G NP_005016.1:n.1156+130A>G
ENST00000295777.9:c.1156+130A>G ENSP00000295777.5:n.1156+130A>G
ENST00000446050.6:c.1156+130A>G ENSP00000397373.2:n.1156+130A>G
ENST00000466865.1:c.281+130A>G
ENST00000488374.5:n.352+130A>G
ENST00000494666.1:n.227+130A>G
XM_017006618.2:c.1156+130A>G XP_016862107.1:n.1156+130A>G