Canonical Allele Identifier: CA9232789

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12852383C>T , CM000681.2:g.12852383C>T	GRCh38
NC_000019.9:g.12963197C>T , CM000681.1:g.12963197C>T	GRCh37
NC_000019.8:g.12824197C>T	NCBI36
NG_054729.1:g.23453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.1053C>T (MAST1)	ENSP00000466470.1:p.Asp351=
ENST00000699746.1:c.603C>T (MAST1)	ENSP00000514556.1:p.Asp201=
ENST00000251472.9:c.1065C>T (MAST1) MANE Select	ENSP00000251472.3:p.Asp355=
ENST00000251472.8:c.1065C>T (MAST1)	ENSP00000251472.3:p.Asp355=
ENST00000588379.5:c.925C>T (MAST1)
ENST00000589040.1:n.118C>T (MAST1)
ENST00000589765.1:n.32+20326G>A (HOOK2)
ENST00000591495.5:c.1053C>T (MAST1)	ENSP00000466470.1:p.Asp351=
NM_014975.2:c.1065C>T (MAST1)	NP_055790.1:p.Asp355=
XM_011527805.1:c.1053C>T (MAST1)	XP_011526107.1:p.Asp351=
XM_011527806.1:c.777C>T (MAST1)	XP_011526108.1:p.Asp259=
XM_011527807.1:c.537C>T (MAST1)	XP_011526109.1:p.Asp179=
XM_011527805.2:c.1053C>T (MAST1)	XP_011526107.1:p.Asp351=
NM_014975.3:c.1065C>T (MAST1) MANE Select	NP_055790.1:p.Asp355=