Canonical Allele Identifier: CA309346608
Gene: MBOAT7 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54180864C>T , CM000681.2:g.54180864C>T GRCh38
NC_000019.8:g.59376393C>T NCBI36
NG_033045.2:g.14012G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245615.6:c.763G>A MANE Select ENSP00000245615.1:p.Gly255Ser
ENST00000245615.5:c.763G>A ENSP00000245615.1:p.Gly255Ser
ENST00000338624.10:c.544G>A ENSP00000344377.5:p.Gly182Ser
ENST00000391754.5:c.763G>A ENSP00000375634.1:p.Gly255Ser
ENST00000414665.5:c.763G>A ENSP00000388250.1:p.Gly255Ser
ENST00000431666.6:c.544G>A ENSP00000410503.2:p.Gly182Ser
ENST00000437868.5:c.*423G>A ENSP00000404915.1:n.*423G>A
ENST00000449249.5:c.349+2657G>A ENSP00000406794.1:n.349+2657G>A
ENST00000495279.2:c.384G>A
NM_001146056.2:c.544G>A NP_001139528.1:p.Gly182Ser
NM_001146082.2:c.763G>A NP_001139554.1:p.Gly255Ser
NM_001146083.2:c.544G>A NP_001139555.1:p.Gly182Ser
NM_024298.4:c.763G>A NP_077274.3:p.Gly255Ser
XM_011527299.1:c.763G>A XP_011525601.1:p.Gly255Ser
XM_011527300.1:c.763G>A XP_011525602.1:p.Gly255Ser
XM_011527299.3:c.763G>A XP_011525601.1:p.Gly255Ser
XM_011527300.2:c.763G>A XP_011525602.1:p.Gly255Ser
XM_017027296.2:c.763G>A XP_016882785.1:p.Gly255Ser
NM_024298.5:c.763G>A MANE Select NP_077274.3:p.Gly255Ser
NM_001146056.3:c.544G>A NP_001139528.1:p.Gly182Ser
NM_001146082.3:c.763G>A NP_001139554.1:p.Gly255Ser
NM_001146083.3:c.544G>A NP_001139555.1:p.Gly182Ser