Canonical Allele Identifier: CA9232850

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12858597G>A , CM000681.2:g.12858597G>A	GRCh38
NC_000019.9:g.12969411G>A , CM000681.1:g.12969411G>A	GRCh37
NC_000019.8:g.12830411G>A	NCBI36
NG_054729.1:g.29667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.1212G>A (MAST1)	ENSP00000466470.1:p.Gln404=
ENST00000699746.1:c.805G>A (MAST1)	ENSP00000514556.1:n.805G>A
ENST00000251472.9:c.1224G>A (MAST1) MANE Select	ENSP00000251472.3:p.Gln408=
ENST00000251472.8:c.1224G>A (MAST1)	ENSP00000251472.3:p.Gln408=
ENST00000588379.5:c.1084G>A (MAST1)
ENST00000589040.1:n.277G>A (MAST1)
ENST00000589765.1:n.32+14112C>T (HOOK2)
ENST00000591495.5:c.1212G>A (MAST1)	ENSP00000466470.1:p.Gln404=
NM_014975.2:c.1224G>A (MAST1)	NP_055790.1:p.Gln408=
XM_011527805.1:c.1212G>A (MAST1)	XP_011526107.1:p.Gln404=
XM_011527806.1:c.936G>A (MAST1)	XP_011526108.1:p.Gln312=
XM_011527807.1:c.696G>A (MAST1)	XP_011526109.1:p.Gln232=
XM_011527805.2:c.1212G>A (MAST1)	XP_011526107.1:p.Gln404=
NM_014975.3:c.1224G>A (MAST1) MANE Select	NP_055790.1:p.Gln408=