Canonical Allele Identifier: CA404259338

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12847440C>T , CM000681.2:g.12847440C>T	GRCh38
NC_000019.9:g.12958254C>T , CM000681.1:g.12958254C>T	GRCh37
NC_000019.8:g.12819254C>T	NCBI36
NG_054729.1:g.18510C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.466C>T (MAST1)	ENSP00000466470.1:p.Arg156Trp
ENST00000699746.1:c.16C>T (MAST1)	ENSP00000514556.1:p.Arg6Trp
ENST00000251472.9:c.478C>T (MAST1) MANE Select	ENSP00000251472.3:p.Arg160Trp
ENST00000251472.8:c.478C>T (MAST1)	ENSP00000251472.3:p.Arg160Trp
ENST00000588379.5:c.338C>T (MAST1)
ENST00000589765.1:n.33-20940G>A (HOOK2)
ENST00000590883.1:n.499C>T (MAST1)
ENST00000591495.5:c.466C>T (MAST1)	ENSP00000466470.1:p.Arg156Trp
ENST00000592713.1:n.206C>T (MAST1)
NM_014975.2:c.478C>T (MAST1)	NP_055790.1:p.Arg160Trp
XM_011527805.1:c.466C>T (MAST1)	XP_011526107.1:p.Arg156Trp
XM_011527806.1:c.190C>T (MAST1)	XP_011526108.1:p.Arg64Trp
XM_011527807.1:c.-51C>T (MAST1)	XP_011526109.1:n.-51C>T
XM_011527805.2:c.466C>T (MAST1)	XP_011526107.1:p.Arg156Trp
NM_014975.3:c.478C>T (MAST1) MANE Select	NP_055790.1:p.Arg160Trp