Canonical Allele Identifier: CA8274665
Community Standard Title: NM_002615.7(SERPINF1):c.392C>A (p.Ala131Asp)
Gene: SERPINF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1771137C>A , CM000679.2:g.1771137C>A GRCh38
NC_000017.10:g.1674431C>A , CM000679.1:g.1674431C>A GRCh37
NC_000017.9:g.1621181C>A NCBI36
NG_028180.1:g.14173C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002615.7:c.392C>A MANE Select NP_002606.3:p.Ala131Asp
ENST00000254722.9:c.392C>A MANE Select ENSP00000254722.4:p.Ala131Asp
NM_001329903.1:c.392C>A NP_001316832.1:p.Ala131Asp
NM_001329903.2:c.392C>A NP_001316832.1:p.Ala131Asp
NM_001329904.1:c.-170C>A NP_001316833.1:n.-170C>A
NM_001329904.2:c.-170C>A NP_001316833.1:n.-170C>A
NM_002615.5:c.392C>A NP_002606.3:p.Ala131Asp
NM_002615.6:c.392C>A NP_002606.3:p.Ala131Asp
ENST00000254722.8:c.392C>A ENSP00000254722.4:p.Ala131Asp
ENST00000570731.5:c.392C>A ENSP00000459869.1:p.Ala131Asp
ENST00000570820.1:n.612C>A
ENST00000571360.5:c.353C>A ENSP00000461660.1:p.Ala118Asp
ENST00000571870.5:n.633C>A
ENST00000573770.5:c.*242C>A ENSP00000459107.1:n.*242C>A
ENST00000576406.5:c.-170C>A ENSP00000461214.1:n.-170C>A