Canonical Allele Identifier: CA1140807352
Community Standard Title: NM_022356.4(P3H1):c.392C= (p.Ser131=)
Gene: P3H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42766580G= , CM000663.2:g.42766580G= GRCh38
NC_000001.10:g.43232251G= , CM000663.1:g.43232251G= GRCh37
NC_000001.9:g.43004838G= NCBI36
NG_008123.1:g.5505C= , LRG_5:g.5505C=

Transcript Alleles

HGVS Amino-acid Change
NM_022356.4:c.392C= MANE Select NP_071751.3:p.Ser131=
ENST00000296388.10:c.392C= MANE Select ENSP00000296388.5:p.Ser131=
NM_001146289.1:c.392C= , LRG_5t2:c.392C= NP_001139761.1:p.Ser131=
NM_001146289.2:c.392C= NP_001139761.1:p.Ser131=
NM_001243246.1:c.392C= , LRG_5t3:c.392C= NP_001230175.1:p.Ser131=
NM_001243246.2:c.392C= NP_001230175.1:p.Ser131=
NM_022356.3:c.392C= , LRG_5t1:c.392C= NP_071751.3:p.Ser131=
ENST00000236040.8:c.392C= ENSP00000236040.4:p.Ser131=
ENST00000296388.9:c.392C= ENSP00000296388.5:p.Ser131=
ENST00000372526.2:c.392C= ENSP00000361604.2:p.Ser131=
ENST00000397054.7:c.392C= ENSP00000380245.3:p.Ser131=
ENST00000460031.5:n.410C=
ENST00000492956.1:n.438C=
ENST00000495874.5:n.443C=
XM_017002051.2:c.-639C= XP_016857540.1:n.-639C=
XM_017002052.2:c.-639C= XP_016857541.1:n.-639C=
XR_946739.1:n.449C=
XR_946739.2:n.449C=