Canonical Allele Identifier: CA404271923

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12865075A>G , CM000681.2:g.12865075A>G	GRCh38
NC_000019.9:g.12975889A>G , CM000681.1:g.12975889A>G	GRCh37
NC_000019.8:g.12836889A>G	NCBI36
NG_054729.1:g.36145A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251472.9:c.1535A>G (MAST1) MANE Select	ENSP00000251472.3:p.Lys512Arg
ENST00000251472.8:c.1535A>G (MAST1)	ENSP00000251472.3:p.Lys512Arg
ENST00000589040.1:n.590A>G (MAST1)
ENST00000589765.1:n.32+7634T>C (HOOK2)
NM_014975.2:c.1535A>G (MAST1)	NP_055790.1:p.Lys512Arg
XM_011527805.1:c.1523A>G (MAST1)	XP_011526107.1:p.Lys508Arg
XM_011527806.1:c.1247A>G (MAST1)	XP_011526108.1:p.Lys416Arg
XM_011527807.1:c.1007A>G (MAST1)	XP_011526109.1:p.Lys336Arg
XM_011527808.1:c.203A>G (MAST1)	XP_011526110.1:p.Lys68Arg
XM_011527805.2:c.1523A>G (MAST1)	XP_011526107.1:p.Lys508Arg
XM_011527808.2:c.203A>G (MAST1)	XP_011526110.1:p.Lys68Arg
NM_014975.3:c.1535A>G (MAST1) MANE Select	NP_055790.1:p.Lys512Arg