Canonical Allele Identifier: CA339956562

Gene: P3H1

Linked Data

• MyVariant Identifiers: chr1:g.43218326A>C (hg19) ; chr1:g.42752655A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42752655A>C , CM000663.2:g.42752655A>C	GRCh38
NC_000001.10:g.43218326A>C , CM000663.1:g.43218326A>C	GRCh37
NC_000001.9:g.42990913A>C	NCBI36
NG_008123.1:g.19430T>G , LRG_5:g.19430T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296388.10:c.1355T>G MANE Select	ENSP00000296388.5:p.Leu452Arg
ENST00000236040.8:c.1355T>G	ENSP00000236040.4:p.Leu452Arg
ENST00000296388.9:c.1355T>G	ENSP00000296388.5:p.Leu452Arg
ENST00000397054.7:c.1355T>G	ENSP00000380245.3:p.Leu452Arg
ENST00000431412.3:c.177T>G
ENST00000447502.2:n.129T>G
ENST00000460031.5:n.1547T>G
ENST00000481465.3:n.78T>G
ENST00000495874.5:n.1635T>G
NM_001146289.1:c.1355T>G , LRG_5t2:c.1355T>G	NP_001139761.1:p.Leu452Arg
NM_001243246.1:c.1355T>G , LRG_5t3:c.1355T>G	NP_001230175.1:p.Leu452Arg
NM_022356.3:c.1355T>G , LRG_5t1:c.1355T>G	NP_071751.3:p.Leu452Arg
XM_005271110.2:c.347T>G	XP_005271167.1:p.Leu116Arg
XM_011541947.1:c.380T>G	XP_011540249.1:p.Leu127Arg
XM_011541948.1:c.380T>G	XP_011540250.1:p.Leu127Arg
XM_011541949.1:c.377T>G	XP_011540251.1:p.Leu126Arg
XM_017002051.2:c.380T>G	XP_016857540.1:p.Leu127Arg
XM_017002052.2:c.377T>G	XP_016857541.1:p.Leu126Arg
XR_946739.2:n.1480T>G
NM_022356.4:c.1355T>G MANE Select	NP_071751.3:p.Leu452Arg
NM_001146289.2:c.1355T>G	NP_001139761.1:p.Leu452Arg
NM_001243246.2:c.1355T>G	NP_001230175.1:p.Leu452Arg