Canonical Allele Identifier: CA2342728624

Gene: MBOAT7

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54173495T>G , CM000681.2:g.54173495T>G	GRCh38
NG_033045.2:g.21381A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024298.5:c.*549A>C MANE Select	NP_077274.3:n.*549A>C
ENST00000245615.6:c.*549A>C MANE Select	ENSP00000245615.1:n.*549A>C
NM_001146056.2:c.*549A>C	NP_001139528.1:n.*549A>C
NM_001146056.3:c.*549A>C	NP_001139528.1:n.*549A>C
NM_001146083.2:c.*549A>C	NP_001139555.1:n.*549A>C
NM_001146083.3:c.*549A>C	NP_001139555.1:n.*549A>C
NM_024298.4:c.*549A>C	NP_077274.3:n.*549A>C
ENST00000245615.5:c.*549A>C	ENSP00000245615.1:n.*549A>C
ENST00000338624.10:c.*549A>C	ENSP00000344377.5:n.*549A>C
ENST00000431666.6:c.*549A>C	ENSP00000410503.2:n.*549A>C
ENST00000437868.5:c.*1628A>C	ENSP00000404915.1:n.*1628A>C
ENST00000494142.1:n.2963A>C
XM_011527299.1:c.*549A>C	XP_011525601.1:n.*549A>C
XM_011527299.3:c.*549A>C	XP_011525601.1:n.*549A>C
XM_011527300.1:c.*549A>C	XP_011525602.1:n.*549A>C
XM_011527300.2:c.*549A>C	XP_011525602.1:n.*549A>C
XR_002958417.1:n.570T>G