Canonical Allele Identifier: CA801524

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42746808T>C , CM000663.2:g.42746808T>C	GRCh38
NC_000001.10:g.43212479T>C , CM000663.1:g.43212479T>C	GRCh37
NC_000001.9:g.42985066T>C	NCBI36
NG_008123.1:g.25277A>G , LRG_5:g.25277A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.2100A>G MANE Select	NP_071751.3:p.Pro700=
ENST00000296388.10:c.2100A>G MANE Select	ENSP00000296388.5:p.Pro700=
NM_001146289.1:c.*25A>G , LRG_5t2:c.*25A>G	NP_001139761.1:n.*25A>G
NM_001146289.2:c.*25A>G	NP_001139761.1:n.*25A>G
NM_001243246.1:c.*104A>G , LRG_5t3:c.*104A>G	NP_001230175.1:n.*104A>G
NM_001243246.2:c.*104A>G	NP_001230175.1:n.*104A>G
NM_022356.3:c.2100A>G , LRG_5t1:c.2100A>G	NP_071751.3:p.Pro700=
ENST00000236040.8:c.*104A>G	ENSP00000236040.4:n.*104A>G
ENST00000296388.9:c.2100A>G	ENSP00000296388.5:p.Pro700=
ENST00000397054.7:c.*25A>G	ENSP00000380245.3:n.*25A>G
ENST00000460031.5:n.2292A>G
ENST00000462474.5:n.281A>G
ENST00000472802.1:n.369A>G
ENST00000495874.5:n.2380A>G
XM_005271110.2:c.1092A>G	XP_005271167.1:p.Pro364=
XM_011541947.1:c.1125A>G	XP_011540249.1:p.Pro375=
XM_011541948.1:c.1125A>G	XP_011540250.1:p.Pro375=
XM_011541949.1:c.1122A>G	XP_011540251.1:p.Pro374=
XM_017002051.2:c.1125A>G	XP_016857540.1:p.Pro375=
XM_017002052.2:c.1122A>G	XP_016857541.1:p.Pro374=