Canonical Allele Identifier: CA309346273

Gene: MBOAT7

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54178865C>T , CM000681.2:g.54178865C>T	GRCh38
NC_000019.8:g.59374394C>T	NCBI36
NG_033045.2:g.16011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245615.6:c.931G>A MANE Select	ENSP00000245615.1:p.Val311Met
ENST00000245615.5:c.931G>A	ENSP00000245615.1:p.Val311Met
ENST00000338624.10:c.712G>A	ENSP00000344377.5:p.Val238Met
ENST00000391754.5:c.931G>A	ENSP00000375634.1:p.Val311Met
ENST00000431666.6:c.712G>A	ENSP00000410503.2:p.Val238Met
ENST00000437868.5:c.*591G>A	ENSP00000404915.1:n.*591G>A
ENST00000449249.5:c.350-4434G>A	ENSP00000406794.1:n.350-4434G>A
ENST00000494142.1:n.1926G>A
NM_001146056.2:c.712G>A	NP_001139528.1:p.Val238Met
NM_001146082.2:c.931G>A	NP_001139554.1:p.Val311Met
NM_001146083.2:c.712G>A	NP_001139555.1:p.Val238Met
NM_024298.4:c.931G>A	NP_077274.3:p.Val311Met
XM_011527299.1:c.931G>A	XP_011525601.1:p.Val311Met
XM_011527300.1:c.931G>A	XP_011525602.1:p.Val311Met
XM_011527299.3:c.931G>A	XP_011525601.1:p.Val311Met
XM_011527300.2:c.931G>A	XP_011525602.1:p.Val311Met
XM_017027296.2:c.931G>A	XP_016882785.1:p.Val311Met
NM_024298.5:c.931G>A MANE Select	NP_077274.3:p.Val311Met
NM_001146056.3:c.712G>A	NP_001139528.1:p.Val238Met
NM_001146082.3:c.931G>A	NP_001139554.1:p.Val311Met
NM_001146083.3:c.712G>A	NP_001139555.1:p.Val238Met