Canonical Allele Identifier: CA2576638601

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12858450C>G , CM000681.2:g.12858450C>G	GRCh38
NC_000019.9:g.12969264C>G , CM000681.1:g.12969264C>G	GRCh37
NC_000019.8:g.12830264C>G	NCBI36
NG_054729.1:g.29520C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.1145+9C>G (MAST1)	ENSP00000466470.1:n.1145+9C>G
ENST00000699746.1:c.738+9C>G (MAST1)	ENSP00000514556.1:n.738+9C>G
ENST00000251472.9:c.1157+9C>G (MAST1) MANE Select	ENSP00000251472.3:n.1157+9C>G
ENST00000251472.8:c.1157+9C>G (MAST1)	ENSP00000251472.3:n.1157+9C>G
ENST00000588379.5:c.1017+9C>G (MAST1)
ENST00000589040.1:n.210+9C>G (MAST1)
ENST00000589765.1:n.32+14259G>C (HOOK2)
ENST00000591495.5:c.1145+9C>G (MAST1)	ENSP00000466470.1:n.1145+9C>G
NM_014975.2:c.1157+9C>G (MAST1)	NP_055790.1:n.1157+9C>G
XM_011527805.1:c.1145+9C>G (MAST1)	XP_011526107.1:n.1145+9C>G
XM_011527806.1:c.869+9C>G (MAST1)	XP_011526108.1:n.869+9C>G
XM_011527807.1:c.629+9C>G (MAST1)	XP_011526109.1:n.629+9C>G
XM_011527805.2:c.1145+9C>G (MAST1)	XP_011526107.1:n.1145+9C>G
NM_014975.3:c.1157+9C>G (MAST1) MANE Select	NP_055790.1:n.1157+9C>G