Canonical Allele Identifier: CA9232505

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12840474A>G , CM000681.2:g.12840474A>G	GRCh38
NC_000019.9:g.12951288A>G , CM000681.1:g.12951288A>G	GRCh37
NC_000019.8:g.12812288A>G	NCBI36
NG_054729.1:g.11544A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.100A>G (MAST1)	ENSP00000466470.1:p.Ile34Val
ENST00000251472.9:c.112A>G (MAST1) MANE Select	ENSP00000251472.3:p.Ile38Val
ENST00000251472.8:c.112A>G (MAST1)	ENSP00000251472.3:p.Ile38Val
ENST00000589765.1:n.33-13974T>C (HOOK2)
ENST00000590883.1:n.212A>G (MAST1)
ENST00000591495.5:c.100A>G (MAST1)	ENSP00000466470.1:p.Ile34Val
NM_014975.2:c.112A>G (MAST1)	NP_055790.1:p.Ile38Val
XM_011527805.1:c.100A>G (MAST1)	XP_011526107.1:p.Ile34Val
XM_011527806.1:c.39+6468A>G (MAST1)	XP_011526108.1:n.39+6468A>G
XM_011527805.2:c.100A>G (MAST1)	XP_011526107.1:p.Ile34Val
NM_014975.3:c.112A>G (MAST1) MANE Select	NP_055790.1:p.Ile38Val