Canonical Allele Identifier: CA309345283

Gene: MBOAT7

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54174347G>T , CM000681.2:g.54174347G>T	GRCh38
NC_000019.8:g.59369853G>T	NCBI36
NG_033045.2:g.20529C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245615.6:c.1116C>A MANE Select	ENSP00000245615.1:p.Cys372Ter
ENST00000245615.5:c.1116C>A	ENSP00000245615.1:p.Cys372Ter
ENST00000338624.10:c.897C>A	ENSP00000344377.5:p.Cys299Ter
ENST00000431666.6:c.897C>A	ENSP00000410503.2:p.Cys299Ter
ENST00000437868.5:c.*776C>A	ENSP00000404915.1:n.*776C>A
ENST00000449249.5:c.434C>A	ENSP00000406794.1:n.434C>A
ENST00000494142.1:n.2111C>A
NM_001146056.2:c.897C>A	NP_001139528.1:p.Cys299Ter
NM_001146083.2:c.897C>A	NP_001139555.1:p.Cys299Ter
NM_024298.4:c.1116C>A	NP_077274.3:p.Cys372Ter
XM_011527299.1:c.1116C>A	XP_011525601.1:p.Cys372Ter
XM_011527300.1:c.1116C>A	XP_011525602.1:p.Cys372Ter
XM_011527299.3:c.1116C>A	XP_011525601.1:p.Cys372Ter
XM_011527300.2:c.1116C>A	XP_011525602.1:p.Cys372Ter
NM_024298.5:c.1116C>A MANE Select	NP_077274.3:p.Cys372Ter
NM_001146056.3:c.897C>A	NP_001139528.1:p.Cys299Ter
NM_001146083.3:c.897C>A	NP_001139555.1:p.Cys299Ter