Canonical Allele Identifier: CA801805

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42752312C>A , CM000663.2:g.42752312C>A	GRCh38
NC_000001.10:g.43217983C>A , CM000663.1:g.43217983C>A	GRCh37
NC_000001.9:g.42990570C>A	NCBI36
NG_008123.1:g.19773G>T , LRG_5:g.19773G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.1531G>T MANE Select	NP_071751.3:p.Glu511Ter
ENST00000296388.10:c.1531G>T MANE Select	ENSP00000296388.5:p.Glu511Ter
NM_001146289.1:c.1531G>T , LRG_5t2:c.1531G>T	NP_001139761.1:p.Glu511Ter
NM_001146289.2:c.1531G>T	NP_001139761.1:p.Glu511Ter
NM_001243246.1:c.1531G>T , LRG_5t3:c.1531G>T	NP_001230175.1:p.Glu511Ter
NM_001243246.2:c.1531G>T	NP_001230175.1:p.Glu511Ter
NM_022356.3:c.1531G>T , LRG_5t1:c.1531G>T	NP_071751.3:p.Glu511Ter
ENST00000236040.8:c.1531G>T	ENSP00000236040.4:p.Glu511Ter
ENST00000296388.9:c.1531G>T	ENSP00000296388.5:p.Glu511Ter
ENST00000397054.7:c.1531G>T	ENSP00000380245.3:p.Glu511Ter
ENST00000431412.3:c.353G>T
ENST00000447502.2:n.305G>T
ENST00000460031.5:n.1723G>T
ENST00000481465.3:n.254G>T
ENST00000495874.5:n.1811G>T
XM_005271110.2:c.523G>T	XP_005271167.1:p.Glu175Ter
XM_011541947.1:c.556G>T	XP_011540249.1:p.Glu186Ter
XM_011541948.1:c.556G>T	XP_011540250.1:p.Glu186Ter
XM_011541949.1:c.553G>T	XP_011540251.1:p.Glu185Ter
XM_017002051.2:c.556G>T	XP_016857540.1:p.Glu186Ter
XM_017002052.2:c.553G>T	XP_016857541.1:p.Glu185Ter
XR_946739.2:n.1656G>T