Canonical Allele Identifier: CA9232714

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12851939T>C , CM000681.2:g.12851939T>C	GRCh38
NC_000019.9:g.12962753T>C , CM000681.1:g.12962753T>C	GRCh37
NC_000019.8:g.12823753T>C	NCBI36
NG_054729.1:g.23009T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.768T>C (MAST1)	ENSP00000466470.1:p.Tyr256=
ENST00000699746.1:c.318T>C (MAST1)	ENSP00000514556.1:p.Tyr106=
ENST00000251472.9:c.780T>C (MAST1) MANE Select	ENSP00000251472.3:p.Tyr260=
ENST00000251472.8:c.780T>C (MAST1)	ENSP00000251472.3:p.Tyr260=
ENST00000588379.5:c.640T>C (MAST1)
ENST00000589765.1:n.32+20770A>G (HOOK2)
ENST00000590204.1:c.245T>C (MAST1)
ENST00000591495.5:c.768T>C (MAST1)	ENSP00000466470.1:p.Tyr256=
NM_014975.2:c.780T>C (MAST1)	NP_055790.1:p.Tyr260=
XM_011527805.1:c.768T>C (MAST1)	XP_011526107.1:p.Tyr256=
XM_011527806.1:c.492T>C (MAST1)	XP_011526108.1:p.Tyr164=
XM_011527807.1:c.252T>C (MAST1)	XP_011526109.1:p.Tyr84=
XM_011527805.2:c.768T>C (MAST1)	XP_011526107.1:p.Tyr256=
NM_014975.3:c.780T>C (MAST1) MANE Select	NP_055790.1:p.Tyr260=