Canonical Allele Identifier: CA801749
Gene: P3H1 HGNC NCBI
COSMIC:
COSM4988022 (not active)
COSM4988023 (not active)
MyVariant.info:
GRCh38 chr1:g.42750259C>T
GRCh37 chr1:g.43215930C>T
Revel Score:
ENST00000397054 0.028
ENST00000236040 0.028
ENST00000296388 (MANE Select) 0.028
ENST00000540027 0.028
gnomAD v2:
1:43215930 C / T
gnomAD v3:
1:42750259 C / T
gnomAD v4:
chr1-42750259-C-T
Joint Max Group AF 0.08905451 (SAS)
Genomes Max Group AF 0.08727459 (SAS)
Exomes Max Group AF 0.08880215 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42750259C>T , CM000663.2:g.42750259C>T GRCh38
NC_000001.10:g.43215930C>T , CM000663.1:g.43215930C>T GRCh37
NC_000001.9:g.42988517C>T NCBI36
NG_008123.1:g.21826G>A , LRG_5:g.21826G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296388.10:c.1647G>A MANE Select ENSP00000296388.5:p.Met549Ile
ENST00000236040.8:c.1647G>A ENSP00000236040.4:p.Met549Ile
ENST00000296388.9:c.1647G>A ENSP00000296388.5:p.Met549Ile
ENST00000397054.7:c.1647G>A ENSP00000380245.3:p.Met549Ile
ENST00000431412.3:c.569G>A
ENST00000460031.5:n.1839G>A
ENST00000481465.3:n.370G>A
ENST00000495874.5:n.1927G>A
NM_001146289.1:c.1647G>A , LRG_5t2:c.1647G>A NP_001139761.1:p.Met549Ile
NM_001243246.1:c.1647G>A , LRG_5t3:c.1647G>A NP_001230175.1:p.Met549Ile
NM_022356.3:c.1647G>A , LRG_5t1:c.1647G>A NP_071751.3:p.Met549Ile
XM_005271110.2:c.639G>A XP_005271167.1:p.Met213Ile
XM_011541947.1:c.672G>A XP_011540249.1:p.Met224Ile
XM_011541948.1:c.672G>A XP_011540250.1:p.Met224Ile
XM_011541949.1:c.669G>A XP_011540251.1:p.Met223Ile
XM_017002051.2:c.672G>A XP_016857540.1:p.Met224Ile
XM_017002052.2:c.669G>A XP_016857541.1:p.Met223Ile
XR_946739.2:n.1772G>A
NM_022356.4:c.1647G>A MANE Select NP_071751.3:p.Met549Ile
NM_001146289.2:c.1647G>A NP_001139761.1:p.Met549Ile
NM_001243246.2:c.1647G>A NP_001230175.1:p.Met549Ile
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