Canonical Allele Identifier: CA404260120

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12847668A>G , CM000681.2:g.12847668A>G	GRCh38
NC_000019.9:g.12958482A>G , CM000681.1:g.12958482A>G	GRCh37
NC_000019.8:g.12819482A>G	NCBI36
NG_054729.1:g.18738A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.533A>G (MAST1)	ENSP00000466470.1:p.Tyr178Cys
ENST00000699746.1:c.83A>G (MAST1)	ENSP00000514556.1:p.Tyr28Cys
ENST00000251472.9:c.545A>G (MAST1) MANE Select	ENSP00000251472.3:p.Tyr182Cys
ENST00000251472.8:c.545A>G (MAST1)	ENSP00000251472.3:p.Tyr182Cys
ENST00000588379.5:c.405A>G (MAST1)
ENST00000589765.1:n.33-21168T>C (HOOK2)
ENST00000590883.1:n.566A>G (MAST1)
ENST00000591495.5:c.533A>G (MAST1)	ENSP00000466470.1:p.Tyr178Cys
ENST00000592713.1:n.273A>G (MAST1)
NM_014975.2:c.545A>G (MAST1)	NP_055790.1:p.Tyr182Cys
XM_011527805.1:c.533A>G (MAST1)	XP_011526107.1:p.Tyr178Cys
XM_011527806.1:c.257A>G (MAST1)	XP_011526108.1:p.Tyr86Cys
XM_011527807.1:c.17A>G (MAST1)	XP_011526109.1:p.Tyr6Cys
XM_011527805.2:c.533A>G (MAST1)	XP_011526107.1:p.Tyr178Cys
NM_014975.3:c.545A>G (MAST1) MANE Select	NP_055790.1:p.Tyr182Cys