Canonical Allele Identifier: CA505775967

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12852198C>A , CM000681.2:g.12852198C>A	GRCh38
NC_000019.9:g.12963012C>A , CM000681.1:g.12963012C>A	GRCh37
NC_000019.8:g.12824012C>A	NCBI36
NG_054729.1:g.23268C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.948C>A (MAST1)	ENSP00000466470.1:p.Ile316=
ENST00000699746.1:c.498C>A (MAST1)	ENSP00000514556.1:p.Ile166=
ENST00000251472.9:c.960C>A (MAST1) MANE Select	ENSP00000251472.3:p.Ile320=
ENST00000251472.8:c.960C>A (MAST1)	ENSP00000251472.3:p.Ile320=
ENST00000588379.5:c.820C>A (MAST1)
ENST00000589040.1:n.13C>A (MAST1)
ENST00000589765.1:n.32+20511G>T (HOOK2)
ENST00000591495.5:c.948C>A (MAST1)	ENSP00000466470.1:p.Ile316=
NM_014975.2:c.960C>A (MAST1)	NP_055790.1:p.Ile320=
XM_011527805.1:c.948C>A (MAST1)	XP_011526107.1:p.Ile316=
XM_011527806.1:c.672C>A (MAST1)	XP_011526108.1:p.Ile224=
XM_011527807.1:c.432C>A (MAST1)	XP_011526109.1:p.Ile144=
XM_011527805.2:c.948C>A (MAST1)	XP_011526107.1:p.Ile316=
NM_014975.3:c.960C>A (MAST1) MANE Select	NP_055790.1:p.Ile320=