Canonical Allele Identifier: CA404282283

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12868838T>C , CM000681.2:g.12868838T>C	GRCh38
NC_000019.9:g.12979652T>C , CM000681.1:g.12979652T>C	GRCh37
NC_000019.8:g.12840652T>C	NCBI36
NG_054729.1:g.39908T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251472.9:c.2762T>C (MAST1) MANE Select	ENSP00000251472.3:p.Met921Thr
ENST00000251472.8:c.2762T>C (MAST1)	ENSP00000251472.3:p.Met921Thr
ENST00000589765.1:n.32+3871A>G (HOOK2)
ENST00000590553.1:n.238T>C (MAST1)
NM_014975.2:c.2762T>C (MAST1)	NP_055790.1:p.Met921Thr
XM_011527805.1:c.2750T>C (MAST1)	XP_011526107.1:p.Met917Thr
XM_011527806.1:c.2474T>C (MAST1)	XP_011526108.1:p.Met825Thr
XM_011527807.1:c.2234T>C (MAST1)	XP_011526109.1:p.Met745Thr
XM_011527808.1:c.1430T>C (MAST1)	XP_011526110.1:p.Met477Thr
XM_011527805.2:c.2750T>C (MAST1)	XP_011526107.1:p.Met917Thr
XM_011527808.2:c.1430T>C (MAST1)	XP_011526110.1:p.Met477Thr
NM_014975.3:c.2762T>C (MAST1) MANE Select	NP_055790.1:p.Met921Thr