Canonical Allele Identifier: CA404277060

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12867514A>G , CM000681.2:g.12867514A>G	GRCh38
NC_000019.9:g.12978328A>G , CM000681.1:g.12978328A>G	GRCh37
NC_000019.8:g.12839328A>G	NCBI36
NG_054729.1:g.38584A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251472.9:c.2180A>G (MAST1) MANE Select	ENSP00000251472.3:p.Lys727Arg
ENST00000251472.8:c.2180A>G (MAST1)	ENSP00000251472.3:p.Lys727Arg
ENST00000589765.1:n.32+5195T>C (HOOK2)
NM_014975.2:c.2180A>G (MAST1)	NP_055790.1:p.Lys727Arg
XM_011527805.1:c.2168A>G (MAST1)	XP_011526107.1:p.Lys723Arg
XM_011527806.1:c.1892A>G (MAST1)	XP_011526108.1:p.Lys631Arg
XM_011527807.1:c.1652A>G (MAST1)	XP_011526109.1:p.Lys551Arg
XM_011527808.1:c.848A>G (MAST1)	XP_011526110.1:p.Lys283Arg
XM_011527805.2:c.2168A>G (MAST1)	XP_011526107.1:p.Lys723Arg
XM_011527808.2:c.848A>G (MAST1)	XP_011526110.1:p.Lys283Arg
NM_014975.3:c.2180A>G (MAST1) MANE Select	NP_055790.1:p.Lys727Arg