Canonical Allele Identifier: CA801904

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42754983G>A , CM000663.2:g.42754983G>A	GRCh38
NC_000001.10:g.43220654G>A , CM000663.1:g.43220654G>A	GRCh37
NC_000001.9:g.42993241G>A	NCBI36
NG_008123.1:g.17102C>T , LRG_5:g.17102C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.1231C>T MANE Select	ENSP00000296388.5:p.Arg411Trp
ENST00000236040.8:c.1231C>T	ENSP00000236040.4:p.Arg411Trp
ENST00000296388.9:c.1231C>T	ENSP00000296388.5:p.Arg411Trp
ENST00000397054.7:c.1231C>T	ENSP00000380245.3:p.Arg411Trp
ENST00000431412.3:c.53C>T
ENST00000447502.2:n.5C>T
ENST00000460031.5:n.1423C>T
ENST00000463465.1:n.894C>T
ENST00000495874.5:n.1511C>T
NM_001146289.1:c.1231C>T , LRG_5t2:c.1231C>T	NP_001139761.1:p.Arg411Trp
NM_001243246.1:c.1231C>T , LRG_5t3:c.1231C>T	NP_001230175.1:p.Arg411Trp
NM_022356.3:c.1231C>T , LRG_5t1:c.1231C>T	NP_071751.3:p.Arg411Trp
XM_005271110.2:c.223C>T	XP_005271167.1:p.Arg75Trp
XM_011541947.1:c.256C>T	XP_011540249.1:p.Arg86Trp
XM_011541948.1:c.256C>T	XP_011540250.1:p.Arg86Trp
XM_011541949.1:c.253C>T	XP_011540251.1:p.Arg85Trp
XR_946739.1:n.1356C>T
XM_017002051.2:c.256C>T	XP_016857540.1:p.Arg86Trp
XM_017002052.2:c.253C>T	XP_016857541.1:p.Arg85Trp
XR_946739.2:n.1356C>T
NM_022356.4:c.1231C>T MANE Select	NP_071751.3:p.Arg411Trp
NM_001146289.2:c.1231C>T	NP_001139761.1:p.Arg411Trp
NM_001243246.2:c.1231C>T	NP_001230175.1:p.Arg411Trp