Canonical Allele Identifier: CA9232625

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12847606C>T , CM000681.2:g.12847606C>T	GRCh38
NC_000019.9:g.12958420C>T , CM000681.1:g.12958420C>T	GRCh37
NC_000019.8:g.12819420C>T	NCBI36
NG_054729.1:g.18676C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014975.3:c.489-6C>T (MAST1) MANE Select	NP_055790.1:n.489-6C>T
ENST00000251472.9:c.489-6C>T (MAST1) MANE Select	ENSP00000251472.3:n.489-6C>T
NM_014975.2:c.489-6C>T (MAST1)	NP_055790.1:n.489-6C>T
ENST00000251472.8:c.489-6C>T (MAST1)	ENSP00000251472.3:n.489-6C>T
ENST00000588379.5:c.349-6C>T (MAST1)
ENST00000589765.1:n.33-21106G>A (HOOK2)
ENST00000590883.1:n.510-6C>T (MAST1)
ENST00000591495.5:c.477-6C>T (MAST1)	ENSP00000466470.1:n.477-6C>T
ENST00000591495.6:c.477-6C>T (MAST1)	ENSP00000466470.1:n.477-6C>T
ENST00000592713.1:n.217-6C>T (MAST1)
ENST00000699746.1:c.27-6C>T (MAST1)	ENSP00000514556.1:n.27-6C>T
XM_011527805.1:c.477-6C>T (MAST1)	XP_011526107.1:n.477-6C>T
XM_011527805.2:c.477-6C>T (MAST1)	XP_011526107.1:n.477-6C>T
XM_011527806.1:c.201-6C>T (MAST1)	XP_011526108.1:n.201-6C>T
XM_011527807.1:c.-40-6C>T (MAST1)	XP_011526109.1:n.-40-6C>T