Canonical Allele Identifier: CA407791949

Gene: MBOAT7

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54174172A>G , CM000681.2:g.54174172A>G	GRCh38
NC_000019.8:g.59369678A>G	NCBI36
NG_033045.2:g.20704T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245615.6:c.1291T>C MANE Select	ENSP00000245615.1:p.Phe431Leu
ENST00000245615.5:c.1291T>C	ENSP00000245615.1:p.Phe431Leu
ENST00000338624.10:c.1072T>C	ENSP00000344377.5:p.Phe358Leu
ENST00000431666.6:c.1072T>C	ENSP00000410503.2:p.Phe358Leu
ENST00000437868.5:c.*951T>C	ENSP00000404915.1:n.*951T>C
ENST00000449249.5:c.609T>C	ENSP00000406794.1:n.609T>C
ENST00000494142.1:n.2286T>C
NM_001146056.2:c.1072T>C	NP_001139528.1:p.Phe358Leu
NM_001146083.2:c.1072T>C	NP_001139555.1:p.Phe358Leu
NM_024298.4:c.1291T>C	NP_077274.3:p.Phe431Leu
XM_011527299.1:c.1291T>C	XP_011525601.1:p.Phe431Leu
XM_011527300.1:c.1291T>C	XP_011525602.1:p.Phe431Leu
XM_011527299.3:c.1291T>C	XP_011525601.1:p.Phe431Leu
XM_011527300.2:c.1291T>C	XP_011525602.1:p.Phe431Leu
NM_024298.5:c.1291T>C MANE Select	NP_077274.3:p.Phe431Leu
NM_001146056.3:c.1072T>C	NP_001139528.1:p.Phe358Leu
NM_001146083.3:c.1072T>C	NP_001139555.1:p.Phe358Leu