Canonical Allele Identifier: CA9232995

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12865803G>A , CM000681.2:g.12865803G>A	GRCh38
NC_000019.9:g.12976617G>A , CM000681.1:g.12976617G>A	GRCh37
NC_000019.8:g.12837617G>A	NCBI36
NG_054729.1:g.36873G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251472.9:c.1891G>A (MAST1) MANE Select	ENSP00000251472.3:p.Val631Ile
ENST00000251472.8:c.1891G>A (MAST1)	ENSP00000251472.3:p.Val631Ile
ENST00000589765.1:n.32+6906C>T (HOOK2)
NM_014975.2:c.1891G>A (MAST1)	NP_055790.1:p.Val631Ile
XM_011527805.1:c.1879G>A (MAST1)	XP_011526107.1:p.Val627Ile
XM_011527806.1:c.1603G>A (MAST1)	XP_011526108.1:p.Val535Ile
XM_011527807.1:c.1363G>A (MAST1)	XP_011526109.1:p.Val455Ile
XM_011527808.1:c.559G>A (MAST1)	XP_011526110.1:p.Val187Ile
XM_011527805.2:c.1879G>A (MAST1)	XP_011526107.1:p.Val627Ile
XM_011527808.2:c.559G>A (MAST1)	XP_011526110.1:p.Val187Ile
NM_014975.3:c.1891G>A (MAST1) MANE Select	NP_055790.1:p.Val631Ile