Canonical Allele Identifier: CA404261275

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12847908G>C , CM000681.2:g.12847908G>C	GRCh38
NC_000019.9:g.12958722G>C , CM000681.1:g.12958722G>C	GRCh37
NC_000019.8:g.12819722G>C	NCBI36
NG_054729.1:g.18978G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591495.6:c.613G>C (MAST1)	ENSP00000466470.1:p.Val205Leu
ENST00000699746.1:c.163G>C (MAST1)	ENSP00000514556.1:p.Val55Leu
ENST00000251472.9:c.625G>C (MAST1) MANE Select	ENSP00000251472.3:p.Val209Leu
ENST00000251472.8:c.625G>C (MAST1)	ENSP00000251472.3:p.Val209Leu
ENST00000588379.5:c.485G>C (MAST1)
ENST00000589765.1:n.33-21408C>G (HOOK2)
ENST00000590204.1:c.90G>C (MAST1)
ENST00000590883.1:n.646G>C (MAST1)
ENST00000591495.5:c.613G>C (MAST1)	ENSP00000466470.1:p.Val205Leu
NM_014975.2:c.625G>C (MAST1)	NP_055790.1:p.Val209Leu
XM_011527805.1:c.613G>C (MAST1)	XP_011526107.1:p.Val205Leu
XM_011527806.1:c.337G>C (MAST1)	XP_011526108.1:p.Val113Leu
XM_011527807.1:c.97G>C (MAST1)	XP_011526109.1:p.Val33Leu
XM_011527805.2:c.613G>C (MAST1)	XP_011526107.1:p.Val205Leu
NM_014975.3:c.625G>C (MAST1) MANE Select	NP_055790.1:p.Val209Leu