Canonical Allele Identifier: CA339955969

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42752551G>A , CM000663.2:g.42752551G>A	GRCh38
NC_000001.10:g.43218222G>A , CM000663.1:g.43218222G>A	GRCh37
NC_000001.9:g.42990809G>A	NCBI36
NG_008123.1:g.19534C>T , LRG_5:g.19534C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.1459C>T MANE Select	NP_071751.3:p.Gln487Ter
ENST00000296388.10:c.1459C>T MANE Select	ENSP00000296388.5:p.Gln487Ter
NM_001146289.1:c.1459C>T , LRG_5t2:c.1459C>T	NP_001139761.1:p.Gln487Ter
NM_001146289.2:c.1459C>T	NP_001139761.1:p.Gln487Ter
NM_001243246.1:c.1459C>T , LRG_5t3:c.1459C>T	NP_001230175.1:p.Gln487Ter
NM_001243246.2:c.1459C>T	NP_001230175.1:p.Gln487Ter
NM_022356.3:c.1459C>T , LRG_5t1:c.1459C>T	NP_071751.3:p.Gln487Ter
ENST00000236040.8:c.1459C>T	ENSP00000236040.4:p.Gln487Ter
ENST00000296388.9:c.1459C>T	ENSP00000296388.5:p.Gln487Ter
ENST00000397054.7:c.1459C>T	ENSP00000380245.3:p.Gln487Ter
ENST00000431412.3:c.281C>T
ENST00000447502.2:n.233C>T
ENST00000460031.5:n.1651C>T
ENST00000481465.3:n.182C>T
ENST00000495874.5:n.1739C>T
XM_005271110.2:c.451C>T	XP_005271167.1:p.Gln151Ter
XM_011541947.1:c.484C>T	XP_011540249.1:p.Gln162Ter
XM_011541948.1:c.484C>T	XP_011540250.1:p.Gln162Ter
XM_011541949.1:c.481C>T	XP_011540251.1:p.Gln161Ter
XM_017002051.2:c.484C>T	XP_016857540.1:p.Gln162Ter
XM_017002052.2:c.481C>T	XP_016857541.1:p.Gln161Ter
XR_946739.2:n.1584C>T