Canonical Allele Identifier: CA9232939

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12865188C>T , CM000681.2:g.12865188C>T	GRCh38
NC_000019.9:g.12976002C>T , CM000681.1:g.12976002C>T	GRCh37
NC_000019.8:g.12837002C>T	NCBI36
NG_054729.1:g.36258C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014975.3:c.1638+10C>T (MAST1) MANE Select	NP_055790.1:n.1638+10C>T
ENST00000251472.9:c.1638+10C>T (MAST1) MANE Select	ENSP00000251472.3:n.1638+10C>T
NM_014975.2:c.1638+10C>T (MAST1)	NP_055790.1:n.1638+10C>T
ENST00000251472.8:c.1638+10C>T (MAST1)	ENSP00000251472.3:n.1638+10C>T
ENST00000589040.1:n.703C>T (MAST1)
ENST00000589765.1:n.32+7521G>A (HOOK2)
XM_011527805.1:c.1626+10C>T (MAST1)	XP_011526107.1:n.1626+10C>T
XM_011527805.2:c.1626+10C>T (MAST1)	XP_011526107.1:n.1626+10C>T
XM_011527806.1:c.1350+10C>T (MAST1)	XP_011526108.1:n.1350+10C>T
XM_011527807.1:c.1110+10C>T (MAST1)	XP_011526109.1:n.1110+10C>T
XM_011527808.1:c.306+10C>T (MAST1)	XP_011526110.1:n.306+10C>T
XM_011527808.2:c.306+10C>T (MAST1)	XP_011526110.1:n.306+10C>T