Canonical Allele Identifier: CA339956527

Gene: P3H1

Linked Data

• MyVariant Identifiers: chr1:g.43218317T>G (hg19) ; chr1:g.42752646T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42752646T>G , CM000663.2:g.42752646T>G	GRCh38
NC_000001.10:g.43218317T>G , CM000663.1:g.43218317T>G	GRCh37
NC_000001.9:g.42990904T>G	NCBI36
NG_008123.1:g.19439A>C , LRG_5:g.19439A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296388.10:c.1364A>C MANE Select	ENSP00000296388.5:p.Glu455Ala
ENST00000236040.8:c.1364A>C	ENSP00000236040.4:p.Glu455Ala
ENST00000296388.9:c.1364A>C	ENSP00000296388.5:p.Glu455Ala
ENST00000397054.7:c.1364A>C	ENSP00000380245.3:p.Glu455Ala
ENST00000431412.3:c.186A>C
ENST00000447502.2:n.138A>C
ENST00000460031.5:n.1556A>C
ENST00000481465.3:n.87A>C
ENST00000495874.5:n.1644A>C
NM_001146289.1:c.1364A>C , LRG_5t2:c.1364A>C	NP_001139761.1:p.Glu455Ala
NM_001243246.1:c.1364A>C , LRG_5t3:c.1364A>C	NP_001230175.1:p.Glu455Ala
NM_022356.3:c.1364A>C , LRG_5t1:c.1364A>C	NP_071751.3:p.Glu455Ala
XM_005271110.2:c.356A>C	XP_005271167.1:p.Glu119Ala
XM_011541947.1:c.389A>C	XP_011540249.1:p.Glu130Ala
XM_011541948.1:c.389A>C	XP_011540250.1:p.Glu130Ala
XM_011541949.1:c.386A>C	XP_011540251.1:p.Glu129Ala
XM_017002051.2:c.389A>C	XP_016857540.1:p.Glu130Ala
XM_017002052.2:c.386A>C	XP_016857541.1:p.Glu129Ala
XR_946739.2:n.1489A>C
NM_022356.4:c.1364A>C MANE Select	NP_071751.3:p.Glu455Ala
NM_001146289.2:c.1364A>C	NP_001139761.1:p.Glu455Ala
NM_001243246.2:c.1364A>C	NP_001230175.1:p.Glu455Ala