Canonical Allele Identifier: CA9232751

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12852192G>A , CM000681.2:g.12852192G>A	GRCh38
NC_000019.9:g.12963006G>A , CM000681.1:g.12963006G>A	GRCh37
NC_000019.8:g.12824006G>A	NCBI36
NG_054729.1:g.23262G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.942G>A (MAST1)	ENSP00000466470.1:p.Thr314=
ENST00000699746.1:c.492G>A (MAST1)	ENSP00000514556.1:p.Thr164=
ENST00000251472.9:c.954G>A (MAST1) MANE Select	ENSP00000251472.3:p.Thr318=
ENST00000251472.8:c.954G>A (MAST1)	ENSP00000251472.3:p.Thr318=
ENST00000588379.5:c.814G>A (MAST1)
ENST00000589040.1:n.7G>A (MAST1)
ENST00000589765.1:n.32+20517C>T (HOOK2)
ENST00000591495.5:c.942G>A (MAST1)	ENSP00000466470.1:p.Thr314=
NM_014975.2:c.954G>A (MAST1)	NP_055790.1:p.Thr318=
XM_011527805.1:c.942G>A (MAST1)	XP_011526107.1:p.Thr314=
XM_011527806.1:c.666G>A (MAST1)	XP_011526108.1:p.Thr222=
XM_011527807.1:c.426G>A (MAST1)	XP_011526109.1:p.Thr142=
XM_011527805.2:c.942G>A (MAST1)	XP_011526107.1:p.Thr314=
NM_014975.3:c.954G>A (MAST1) MANE Select	NP_055790.1:p.Thr318=