Canonical Allele Identifier: CA129915
Gene: GNPAT HGNC NCBI
COSMIC:
COSM3997333 (not active)
MyVariant.info:
GRCh38 chr1:g.231272345A>G
GRCh37 chr1:g.231408091A>G
Revel Score:
ENST00000366647 (MANE Select) 0.093
ENST00000366646 0.093
ENST00000416000 0.093
gnomAD v2:
1:231408091 A / G
gnomAD v3:
1:231272345 A / G
gnomAD v4:
chr1-231272345-A-G
Joint Max Group AF 0.21455921 (NFE)
Genomes Max Group AF 0.20678824 (NFE)
Exomes Max Group AF 0.21488671 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231272345A>G , CM000663.2:g.231272345A>G GRCh38
NC_000001.10:g.231408091A>G , CM000663.1:g.231408091A>G GRCh37
NC_000001.9:g.229474714A>G NCBI36
NG_008240.1:g.36173A>G
NG_008240.2:g.36173A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366647.9:c.1556A>G MANE Select ENSP00000355607.4:p.Asp519Gly
ENST00000644483.1:c.*1242A>G ENSP00000496537.1:n.*1242A>G
ENST00000366647.8:c.1556A>G ENSP00000355607.4:p.Asp519Gly
ENST00000416000.1:c.1526A>G ENSP00000411640.1:p.Asp509Gly
NM_001316350.1:c.1373A>G NP_001303279.1:p.Asp458Gly
NM_014236.3:c.1556A>G NP_055051.1:p.Asp519Gly
XM_005273313.3:c.1553A>G XP_005273370.1:p.Asp518Gly
XM_011544303.1:c.1229A>G XP_011542605.1:p.Asp410Gly
XM_011544304.1:c.1229A>G XP_011542606.1:p.Asp410Gly
XM_005273313.4:c.1553A>G XP_005273370.1:p.Asp518Gly
XM_011544303.3:c.1229A>G XP_011542605.1:p.Asp410Gly
XM_011544304.2:c.1229A>G XP_011542606.1:p.Asp410Gly
NM_014236.4:c.1556A>G MANE Select NP_055051.1:p.Asp519Gly
NM_001316350.2:c.1373A>G NP_001303279.1:p.Asp458Gly
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