Canonical Allele Identifier: CA417392571

Gene: P3H1

Linked Data

• MyVariant Identifiers: chr1:g.43218319A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42752648A>G , CM000663.2:g.42752648A>G	GRCh38
NC_000001.10:g.43218319A>G , CM000663.1:g.43218319A>G	GRCh37
NC_000001.9:g.42990906A>G	NCBI36
NG_008123.1:g.19437T>C , LRG_5:g.19437T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296388.10:c.1362T>C MANE Select	ENSP00000296388.5:p.Tyr454=
ENST00000236040.8:c.1362T>C	ENSP00000236040.4:p.Tyr454=
ENST00000296388.9:c.1362T>C	ENSP00000296388.5:p.Tyr454=
ENST00000397054.7:c.1362T>C	ENSP00000380245.3:p.Tyr454=
ENST00000431412.3:c.184T>C
ENST00000447502.2:n.136T>C
ENST00000460031.5:n.1554T>C
ENST00000481465.3:n.85T>C
ENST00000495874.5:n.1642T>C
NM_001146289.1:c.1362T>C , LRG_5t2:c.1362T>C	NP_001139761.1:p.Tyr454=
NM_001243246.1:c.1362T>C , LRG_5t3:c.1362T>C	NP_001230175.1:p.Tyr454=
NM_022356.3:c.1362T>C , LRG_5t1:c.1362T>C	NP_071751.3:p.Tyr454=
XM_005271110.2:c.354T>C	XP_005271167.1:p.Tyr118=
XM_011541947.1:c.387T>C	XP_011540249.1:p.Tyr129=
XM_011541948.1:c.387T>C	XP_011540250.1:p.Tyr129=
XM_011541949.1:c.384T>C	XP_011540251.1:p.Tyr128=
XM_017002051.2:c.387T>C	XP_016857540.1:p.Tyr129=
XM_017002052.2:c.384T>C	XP_016857541.1:p.Tyr128=
XR_946739.2:n.1487T>C
NM_022356.4:c.1362T>C MANE Select	NP_071751.3:p.Tyr454=
NM_001146289.2:c.1362T>C	NP_001139761.1:p.Tyr454=
NM_001243246.2:c.1362T>C	NP_001230175.1:p.Tyr454=