Canonical Allele Identifier: CA9232796

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12852411T>A , CM000681.2:g.12852411T>A	GRCh38
NC_000019.9:g.12963225T>A , CM000681.1:g.12963225T>A	GRCh37
NC_000019.8:g.12824225T>A	NCBI36
NG_054729.1:g.23481T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014975.3:c.1077+16T>A (MAST1) MANE Select	NP_055790.1:n.1077+16T>A
ENST00000251472.9:c.1077+16T>A (MAST1) MANE Select	ENSP00000251472.3:n.1077+16T>A
NM_014975.2:c.1077+16T>A (MAST1)	NP_055790.1:n.1077+16T>A
ENST00000251472.8:c.1077+16T>A (MAST1)	ENSP00000251472.3:n.1077+16T>A
ENST00000588379.5:c.937+16T>A (MAST1)
ENST00000589040.1:n.130+16T>A (MAST1)
ENST00000589765.1:n.32+20298A>T (HOOK2)
ENST00000591495.5:c.1065+16T>A (MAST1)	ENSP00000466470.1:n.1065+16T>A
ENST00000591495.6:c.1065+16T>A (MAST1)	ENSP00000466470.1:n.1065+16T>A
ENST00000699746.1:c.615+16T>A (MAST1)	ENSP00000514556.1:n.615+16T>A
XM_011527805.1:c.1065+16T>A (MAST1)	XP_011526107.1:n.1065+16T>A
XM_011527805.2:c.1065+16T>A (MAST1)	XP_011526107.1:n.1065+16T>A
XM_011527806.1:c.789+16T>A (MAST1)	XP_011526108.1:n.789+16T>A
XM_011527807.1:c.549+16T>A (MAST1)	XP_011526109.1:n.549+16T>A