Canonical Allele Identifier: CA822878601
Gene: MBOAT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.20184820A>C , CM000668.2:g.20184820A>C GRCh38
NC_000006.11:g.20185051A>C , CM000668.1:g.20185051A>C GRCh37
NC_000006.10:g.20293030A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000324607.8:c.99+27316T>G MANE Select ENSP00000324944.7:n.99+27316T>G
ENST00000324607.7:c.99+27316T>G ENSP00000324944.7:n.99+27316T>G
NM_001080480.2:c.99+27316T>G NP_001073949.1:n.99+27316T>G
NR_073465.1:n.329+27316T>G
XM_006714999.1:c.3+22118T>G XP_006715062.1:n.3+22118T>G
XM_006715000.2:c.99+27316T>G XP_006715063.1:n.99+27316T>G
XM_011514313.1:c.99+27316T>G XP_011512615.1:n.99+27316T>G
XR_926070.1:n.267+27316T>G
XR_926071.1:n.267+27316T>G
XM_006714999.2:c.3+22118T>G XP_006715062.1:n.3+22118T>G
XM_006715000.4:c.99+27316T>G XP_006715063.1:n.99+27316T>G
XM_011514313.3:c.99+27316T>G XP_011512615.1:n.99+27316T>G
NM_001080480.3:c.99+27316T>G MANE Select NP_001073949.1:n.99+27316T>G
NR_073465.2:n.334+27316T>G
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