Canonical Allele Identifier: CA339956568

Gene: P3H1

Linked Data

• MyVariant Identifiers: chr1:g.43218327G>T (hg19) ; chr1:g.42752656G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42752656G>T , CM000663.2:g.42752656G>T	GRCh38
NC_000001.10:g.43218327G>T , CM000663.1:g.43218327G>T	GRCh37
NC_000001.9:g.42990914G>T	NCBI36
NG_008123.1:g.19429C>A , LRG_5:g.19429C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296388.10:c.1354C>A MANE Select	ENSP00000296388.5:p.Leu452Met
ENST00000236040.8:c.1354C>A	ENSP00000236040.4:p.Leu452Met
ENST00000296388.9:c.1354C>A	ENSP00000296388.5:p.Leu452Met
ENST00000397054.7:c.1354C>A	ENSP00000380245.3:p.Leu452Met
ENST00000431412.3:c.176C>A
ENST00000447502.2:n.128C>A
ENST00000460031.5:n.1546C>A
ENST00000481465.3:n.77C>A
ENST00000495874.5:n.1634C>A
NM_001146289.1:c.1354C>A , LRG_5t2:c.1354C>A	NP_001139761.1:p.Leu452Met
NM_001243246.1:c.1354C>A , LRG_5t3:c.1354C>A	NP_001230175.1:p.Leu452Met
NM_022356.3:c.1354C>A , LRG_5t1:c.1354C>A	NP_071751.3:p.Leu452Met
XM_005271110.2:c.346C>A	XP_005271167.1:p.Leu116Met
XM_011541947.1:c.379C>A	XP_011540249.1:p.Leu127Met
XM_011541948.1:c.379C>A	XP_011540250.1:p.Leu127Met
XM_011541949.1:c.376C>A	XP_011540251.1:p.Leu126Met
XM_017002051.2:c.379C>A	XP_016857540.1:p.Leu127Met
XM_017002052.2:c.376C>A	XP_016857541.1:p.Leu126Met
XR_946739.2:n.1479C>A
NM_022356.4:c.1354C>A MANE Select	NP_071751.3:p.Leu452Met
NM_001146289.2:c.1354C>A	NP_001139761.1:p.Leu452Met
NM_001243246.2:c.1354C>A	NP_001230175.1:p.Leu452Met