Canonical Allele Identifier: CA404267051

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12858437T>C , CM000681.2:g.12858437T>C	GRCh38
NC_000019.9:g.12969251T>C , CM000681.1:g.12969251T>C	GRCh37
NC_000019.8:g.12830251T>C	NCBI36
NG_054729.1:g.29507T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.1141T>C (MAST1)	ENSP00000466470.1:p.Tyr381His
ENST00000699746.1:c.734T>C (MAST1)	ENSP00000514556.1:n.734T>C
ENST00000251472.9:c.1153T>C (MAST1) MANE Select	ENSP00000251472.3:p.Tyr385His
ENST00000251472.8:c.1153T>C (MAST1)	ENSP00000251472.3:p.Tyr385His
ENST00000588379.5:c.1013T>C (MAST1)
ENST00000589040.1:n.206T>C (MAST1)
ENST00000589765.1:n.32+14272A>G (HOOK2)
ENST00000591495.5:c.1141T>C (MAST1)	ENSP00000466470.1:p.Tyr381His
NM_014975.2:c.1153T>C (MAST1)	NP_055790.1:p.Tyr385His
XM_011527805.1:c.1141T>C (MAST1)	XP_011526107.1:p.Tyr381His
XM_011527806.1:c.865T>C (MAST1)	XP_011526108.1:p.Tyr289His
XM_011527807.1:c.625T>C (MAST1)	XP_011526109.1:p.Tyr209His
XM_011527805.2:c.1141T>C (MAST1)	XP_011526107.1:p.Tyr381His
NM_014975.3:c.1153T>C (MAST1) MANE Select	NP_055790.1:p.Tyr385His