Canonical Allele Identifier: CA404274863

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12866076C>T , CM000681.2:g.12866076C>T	GRCh38
NC_000019.9:g.12976890C>T , CM000681.1:g.12976890C>T	GRCh37
NC_000019.8:g.12837890C>T	NCBI36
NG_054729.1:g.37146C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251472.9:c.2003C>T (MAST1) MANE Select	ENSP00000251472.3:p.Ser668Leu
ENST00000251472.8:c.2003C>T (MAST1)	ENSP00000251472.3:p.Ser668Leu
ENST00000589765.1:n.32+6633G>A (HOOK2)
NM_014975.2:c.2003C>T (MAST1)	NP_055790.1:p.Ser668Leu
XM_011527805.1:c.1991C>T (MAST1)	XP_011526107.1:p.Ser664Leu
XM_011527806.1:c.1715C>T (MAST1)	XP_011526108.1:p.Ser572Leu
XM_011527807.1:c.1475C>T (MAST1)	XP_011526109.1:p.Ser492Leu
XM_011527808.1:c.671C>T (MAST1)	XP_011526110.1:p.Ser224Leu
XM_011527805.2:c.1991C>T (MAST1)	XP_011526107.1:p.Ser664Leu
XM_011527808.2:c.671C>T (MAST1)	XP_011526110.1:p.Ser224Leu
NM_014975.3:c.2003C>T (MAST1) MANE Select	NP_055790.1:p.Ser668Leu