Canonical Allele Identifier: CA801513
Gene: P3H1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42746761C>G
GRCh37 chr1:g.43212432C>G
Revel Score:
ENST00000296388 (MANE Select) 0.009
ENST00000540027 0.009
gnomAD v2:
1:43212432 C / G
gnomAD v3:
1:42746761 C / G
gnomAD v4:
chr1-42746761-C-G
Joint Max Group AF 0.00190604 (AFR)
Genomes Max Group AF 0.0018702 (AFR)
Exomes Max Group AF 0.00170248 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42746761C>G , CM000663.2:g.42746761C>G GRCh38
NC_000001.10:g.43212432C>G , CM000663.1:g.43212432C>G GRCh37
NC_000001.9:g.42985019C>G NCBI36
NG_008123.1:g.25324G>C , LRG_5:g.25324G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296388.10:c.2147G>C MANE Select ENSP00000296388.5:p.Gly716Ala
ENST00000236040.8:c.*151G>C ENSP00000236040.4:n.*151G>C
ENST00000296388.9:c.2147G>C ENSP00000296388.5:p.Gly716Ala
ENST00000397054.7:c.*72G>C ENSP00000380245.3:n.*72G>C
ENST00000460031.5:n.2339G>C
ENST00000462474.5:n.328G>C
ENST00000472802.1:n.416G>C
ENST00000495874.5:n.2427G>C
NM_001146289.1:c.*72G>C , LRG_5t2:c.*72G>C NP_001139761.1:n.*72G>C
NM_001243246.1:c.*151G>C , LRG_5t3:c.*151G>C NP_001230175.1:n.*151G>C
NM_022356.3:c.2147G>C , LRG_5t1:c.2147G>C NP_071751.3:p.Gly716Ala
XM_005271110.2:c.1139G>C XP_005271167.1:p.Gly380Ala
XM_011541947.1:c.1172G>C XP_011540249.1:p.Gly391Ala
XM_011541948.1:c.1172G>C XP_011540250.1:p.Gly391Ala
XM_011541949.1:c.1169G>C XP_011540251.1:p.Gly390Ala
XM_017002051.2:c.1172G>C XP_016857540.1:p.Gly391Ala
XM_017002052.2:c.1169G>C XP_016857541.1:p.Gly390Ala
NM_022356.4:c.2147G>C MANE Select NP_071751.3:p.Gly716Ala
NM_001146289.2:c.*72G>C NP_001139761.1:n.*72G>C
NM_001243246.2:c.*151G>C NP_001230175.1:n.*151G>C
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