Canonical Allele Identifier: CA9232563

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12843535C>T , CM000681.2:g.12843535C>T	GRCh38
NC_000019.9:g.12954349C>T , CM000681.1:g.12954349C>T	GRCh37
NC_000019.8:g.12815349C>T	NCBI36
NG_054729.1:g.14605C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.243C>T (MAST1)	ENSP00000466470.1:p.Asp81=
ENST00000251472.9:c.255C>T (MAST1) MANE Select	ENSP00000251472.3:p.Asp85=
ENST00000251472.8:c.255C>T (MAST1)	ENSP00000251472.3:p.Asp85=
ENST00000588379.5:c.115C>T (MAST1)
ENST00000589765.1:n.33-17035G>A (HOOK2)
ENST00000590883.1:n.348+2469C>T (MAST1)
ENST00000591495.5:c.243C>T (MAST1)	ENSP00000466470.1:p.Asp81=
NM_014975.2:c.255C>T (MAST1)	NP_055790.1:p.Asp85=
XM_011527805.1:c.243C>T (MAST1)	XP_011526107.1:p.Asp81=
XM_011527806.1:c.40-3755C>T (MAST1)	XP_011526108.1:n.40-3755C>T
XM_011527807.1:c.-274C>T (MAST1)	XP_011526109.1:n.-274C>T
XM_011527805.2:c.243C>T (MAST1)	XP_011526107.1:p.Asp81=
NM_014975.3:c.255C>T (MAST1) MANE Select	NP_055790.1:p.Asp85=