Canonical Allele Identifier: CA801698

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42748243C>T , CM000663.2:g.42748243C>T	GRCh38
NC_000001.10:g.43213914C>T , CM000663.1:g.43213914C>T	GRCh37
NC_000001.9:g.42986501C>T	NCBI36
NG_008123.1:g.23842G>A , LRG_5:g.23842G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.1795G>A MANE Select	NP_071751.3:p.Val599Met
ENST00000296388.10:c.1795G>A MANE Select	ENSP00000296388.5:p.Val599Met
NM_001146289.1:c.1795G>A , LRG_5t2:c.1795G>A	NP_001139761.1:p.Val599Met
NM_001146289.2:c.1795G>A	NP_001139761.1:p.Val599Met
NM_001243246.1:c.1795G>A , LRG_5t3:c.1795G>A	NP_001230175.1:p.Val599Met
NM_001243246.2:c.1795G>A	NP_001230175.1:p.Val599Met
NM_022356.3:c.1795G>A , LRG_5t1:c.1795G>A	NP_071751.3:p.Val599Met
ENST00000236040.8:c.1795G>A	ENSP00000236040.4:p.Val599Met
ENST00000296388.9:c.1795G>A	ENSP00000296388.5:p.Val599Met
ENST00000397054.7:c.1795G>A	ENSP00000380245.3:p.Val599Met
ENST00000431412.3:c.717G>A
ENST00000460031.5:n.1987G>A
ENST00000460831.1:n.501G>A
ENST00000495874.5:n.2075G>A
XM_005271110.2:c.787G>A	XP_005271167.1:p.Val263Met
XM_011541947.1:c.820G>A	XP_011540249.1:p.Val274Met
XM_011541948.1:c.820G>A	XP_011540250.1:p.Val274Met
XM_011541949.1:c.817G>A	XP_011540251.1:p.Val273Met
XM_017002051.2:c.820G>A	XP_016857540.1:p.Val274Met
XM_017002052.2:c.817G>A	XP_016857541.1:p.Val273Met
XR_946739.2:n.1920G>A