Canonical Allele Identifier: CA9232852

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12858624G>A , CM000681.2:g.12858624G>A	GRCh38
NC_000019.9:g.12969438G>A , CM000681.1:g.12969438G>A	GRCh37
NC_000019.8:g.12830438G>A	NCBI36
NG_054729.1:g.29694G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.1239G>A (MAST1)	ENSP00000466470.1:p.Gln413=
ENST00000699746.1:c.832G>A (MAST1)	ENSP00000514556.1:n.832G>A
ENST00000251472.9:c.1251G>A (MAST1) MANE Select	ENSP00000251472.3:p.Gln417=
ENST00000251472.8:c.1251G>A (MAST1)	ENSP00000251472.3:p.Gln417=
ENST00000588379.5:c.1111G>A (MAST1)
ENST00000589040.1:n.304G>A (MAST1)
ENST00000589765.1:n.32+14085C>T (HOOK2)
ENST00000591495.5:c.1239G>A (MAST1)	ENSP00000466470.1:p.Gln413=
NM_014975.2:c.1251G>A (MAST1)	NP_055790.1:p.Gln417=
XM_011527805.1:c.1239G>A (MAST1)	XP_011526107.1:p.Gln413=
XM_011527806.1:c.963G>A (MAST1)	XP_011526108.1:p.Gln321=
XM_011527807.1:c.723G>A (MAST1)	XP_011526109.1:p.Gln241=
XM_011527805.2:c.1239G>A (MAST1)	XP_011526107.1:p.Gln413=
NM_014975.3:c.1251G>A (MAST1) MANE Select	NP_055790.1:p.Gln417=