Canonical Allele Identifier: CA339951938

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42747186T>C , CM000663.2:g.42747186T>C	GRCh38
NC_000001.10:g.43212857T>C , CM000663.1:g.43212857T>C	GRCh37
NC_000001.9:g.42985444T>C	NCBI36
NG_008123.1:g.24899A>G , LRG_5:g.24899A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.2055+86A>G MANE Select	NP_071751.3:n.2055+86A>G
ENST00000296388.10:c.2055+86A>G MANE Select	ENSP00000296388.5:n.2055+86A>G
NM_001146289.1:c.2074+67A>G , LRG_5t2:c.2074+67A>G	NP_001139761.1:n.2074+67A>G
NM_001146289.2:c.2074+67A>G	NP_001139761.1:n.2074+67A>G
NM_001243246.1:c.2141A>G , LRG_5t3:c.2141A>G	NP_001230175.1:p.Lys714Arg
NM_001243246.2:c.2141A>G	NP_001230175.1:p.Lys714Arg
NM_022356.3:c.2055+86A>G , LRG_5t1:c.2055+86A>G	NP_071751.3:n.2055+86A>G
ENST00000236040.8:c.2141A>G	ENSP00000236040.4:p.Lys714Arg
ENST00000296388.9:c.2055+86A>G	ENSP00000296388.5:n.2055+86A>G
ENST00000397054.7:c.2074+67A>G	ENSP00000380245.3:n.2074+67A>G
ENST00000460031.5:n.2247+86A>G
ENST00000462474.5:n.236+67A>G
ENST00000472802.1:n.324+67A>G
ENST00000495874.5:n.2335+86A>G
XM_005271110.2:c.1047+86A>G	XP_005271167.1:n.1047+86A>G
XM_011541947.1:c.1080+86A>G	XP_011540249.1:n.1080+86A>G
XM_011541948.1:c.1080+86A>G	XP_011540250.1:n.1080+86A>G
XM_011541949.1:c.1077+86A>G	XP_011540251.1:n.1077+86A>G
XM_017002051.2:c.1080+86A>G	XP_016857540.1:n.1080+86A>G
XM_017002052.2:c.1077+86A>G	XP_016857541.1:n.1077+86A>G