Canonical Allele Identifier: CA802238
Gene: P3H1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42766891C>G
GRCh37 chr1:g.43232562C>G
Revel Score:
ENST00000397054 0.079
ENST00000236040 0.079
ENST00000296388 (MANE Select) 0.079
ENST00000372526 0.079
gnomAD v2:
1:43232562 C / G
gnomAD v3:
1:42766891 C / G
gnomAD v4:
chr1-42766891-C-G
Joint Max Group AF 0.00276173 (EAS)
Genomes Max Group AF 0.00224691 (EAS)
Exomes Max Group AF 0.00270036 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42766891C>G , CM000663.2:g.42766891C>G GRCh38
NC_000001.10:g.43232562C>G , CM000663.1:g.43232562C>G GRCh37
NC_000001.9:g.43005149C>G NCBI36
NG_008123.1:g.5194G>C , LRG_5:g.5194G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296388.10:c.81G>C MANE Select ENSP00000296388.5:p.Glu27Asp
ENST00000236040.8:c.81G>C ENSP00000236040.4:p.Glu27Asp
ENST00000296388.9:c.81G>C ENSP00000296388.5:p.Glu27Asp
ENST00000372526.2:c.81G>C ENSP00000361604.2:p.Glu27Asp
ENST00000397054.7:c.81G>C ENSP00000380245.3:p.Glu27Asp
ENST00000460031.5:n.99G>C
ENST00000492956.1:n.127G>C
ENST00000495874.5:n.132G>C
NM_001146289.1:c.81G>C , LRG_5t2:c.81G>C NP_001139761.1:p.Glu27Asp
NM_001243246.1:c.81G>C , LRG_5t3:c.81G>C NP_001230175.1:p.Glu27Asp
NM_022356.3:c.81G>C , LRG_5t1:c.81G>C NP_071751.3:p.Glu27Asp
XR_946739.1:n.138G>C
XM_017002051.2:c.-950G>C XP_016857540.1:n.-950G>C
XM_017002052.2:c.-950G>C XP_016857541.1:n.-950G>C
XR_946739.2:n.138G>C
NM_022356.4:c.81G>C MANE Select NP_071751.3:p.Glu27Asp
NM_001146289.2:c.81G>C NP_001139761.1:p.Glu27Asp
NM_001243246.2:c.81G>C NP_001230175.1:p.Glu27Asp
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