Canonical Allele Identifier: CA801502
Gene: P3H1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42746744G>T
GRCh37 chr1:g.43212415G>T
Revel Score:
ENST00000296388 (MANE Select) 0.001
ENST00000540027 0.001
gnomAD v2:
1:43212415 G / T
gnomAD v3:
1:42746744 G / T
gnomAD v4:
chr1-42746744-G-T
Joint Max Group AF 0.00078046 (MID)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.00082369 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42746744G>T , CM000663.2:g.42746744G>T GRCh38
NC_000001.10:g.43212415G>T , CM000663.1:g.43212415G>T GRCh37
NC_000001.9:g.42985002G>T NCBI36
NG_008123.1:g.25341C>A , LRG_5:g.25341C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296388.10:c.2164C>A MANE Select ENSP00000296388.5:p.Gln722Lys
ENST00000236040.8:c.*168C>A ENSP00000236040.4:n.*168C>A
ENST00000296388.9:c.2164C>A ENSP00000296388.5:p.Gln722Lys
ENST00000397054.7:c.*89C>A ENSP00000380245.3:n.*89C>A
ENST00000460031.5:n.2356C>A
ENST00000462474.5:n.345C>A
ENST00000472802.1:n.433C>A
ENST00000495874.5:n.2444C>A
NM_001146289.1:c.*89C>A , LRG_5t2:c.*89C>A NP_001139761.1:n.*89C>A
NM_001243246.1:c.*168C>A , LRG_5t3:c.*168C>A NP_001230175.1:n.*168C>A
NM_022356.3:c.2164C>A , LRG_5t1:c.2164C>A NP_071751.3:p.Gln722Lys
XM_005271110.2:c.1156C>A XP_005271167.1:p.Gln386Lys
XM_011541947.1:c.1189C>A XP_011540249.1:p.Gln397Lys
XM_011541948.1:c.1189C>A XP_011540250.1:p.Gln397Lys
XM_011541949.1:c.1186C>A XP_011540251.1:p.Gln396Lys
XM_017002051.2:c.1189C>A XP_016857540.1:p.Gln397Lys
XM_017002052.2:c.1186C>A XP_016857541.1:p.Gln396Lys
NM_022356.4:c.2164C>A MANE Select NP_071751.3:p.Gln722Lys
NM_001146289.2:c.*89C>A NP_001139761.1:n.*89C>A
NM_001243246.2:c.*168C>A NP_001230175.1:n.*168C>A
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