Canonical Allele Identifier: CA404258970

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12847398G>A , CM000681.2:g.12847398G>A	GRCh38
NC_000019.9:g.12958212G>A , CM000681.1:g.12958212G>A	GRCh37
NC_000019.8:g.12819212G>A	NCBI36
NG_054729.1:g.18468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.424G>A (MAST1)	ENSP00000466470.1:p.Glu142Lys
ENST00000251472.9:c.436G>A (MAST1) MANE Select	ENSP00000251472.3:p.Glu146Lys
ENST00000251472.8:c.436G>A (MAST1)	ENSP00000251472.3:p.Glu146Lys
ENST00000588379.5:c.296G>A (MAST1)
ENST00000589765.1:n.33-20898C>T (HOOK2)
ENST00000590883.1:n.457G>A (MAST1)
ENST00000591495.5:c.424G>A (MAST1)	ENSP00000466470.1:p.Glu142Lys
ENST00000592713.1:n.164G>A (MAST1)
NM_014975.2:c.436G>A (MAST1)	NP_055790.1:p.Glu146Lys
XM_011527805.1:c.424G>A (MAST1)	XP_011526107.1:p.Glu142Lys
XM_011527806.1:c.148G>A (MAST1)	XP_011526108.1:p.Glu50Lys
XM_011527807.1:c.-93G>A (MAST1)	XP_011526109.1:n.-93G>A
XM_011527805.2:c.424G>A (MAST1)	XP_011526107.1:p.Glu142Lys
NM_014975.3:c.436G>A (MAST1) MANE Select	NP_055790.1:p.Glu146Lys