Canonical Allele Identifier: CA404278117

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12867636G>T , CM000681.2:g.12867636G>T	GRCh38
NC_000019.9:g.12978450G>T , CM000681.1:g.12978450G>T	GRCh37
NC_000019.8:g.12839450G>T	NCBI36
NG_054729.1:g.38706G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251472.9:c.2302G>T (MAST1) MANE Select	ENSP00000251472.3:p.Gly768Trp
ENST00000251472.8:c.2302G>T (MAST1)	ENSP00000251472.3:p.Gly768Trp
ENST00000589765.1:n.32+5073C>A (HOOK2)
NM_014975.2:c.2302G>T (MAST1)	NP_055790.1:p.Gly768Trp
XM_011527805.1:c.2290G>T (MAST1)	XP_011526107.1:p.Gly764Trp
XM_011527806.1:c.2014G>T (MAST1)	XP_011526108.1:p.Gly672Trp
XM_011527807.1:c.1774G>T (MAST1)	XP_011526109.1:p.Gly592Trp
XM_011527808.1:c.970G>T (MAST1)	XP_011526110.1:p.Gly324Trp
XM_011527805.2:c.2290G>T (MAST1)	XP_011526107.1:p.Gly764Trp
XM_011527808.2:c.970G>T (MAST1)	XP_011526110.1:p.Gly324Trp
NM_014975.3:c.2302G>T (MAST1) MANE Select	NP_055790.1:p.Gly768Trp