Canonical Allele Identifier: CA357508046

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600614G>T , CM000666.2:g.99600614G>T	GRCh38
NC_000004.11:g.100521771G>T , CM000666.1:g.100521771G>T	GRCh37
NC_000004.10:g.100740794G>T	NCBI36
NG_011469.1:g.41532G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001386140.1:c.1117G>T MANE Select	NP_001373069.1:p.Glu373Ter
ENST00000265517.10:c.1117G>T MANE Select	ENSP00000265517.5:p.Glu373Ter
NM_000253.3:c.1117G>T	NP_000244.2:p.Glu373Ter
NM_000253.4:c.1117G>T	NP_000244.2:p.Glu373Ter
NM_001300785.1:c.1198G>T	NP_001287714.1:p.Glu400Ter
NM_001300785.2:c.868G>T	NP_001287714.2:p.Glu290Ter
ENST00000265517.9:c.1117G>T	ENSP00000265517.5:p.Glu373Ter
ENST00000457717.5:c.1117G>T	ENSP00000400821.1:p.Glu373Ter
ENST00000457717.6:c.1117G>T	ENSP00000400821.1:p.Glu373Ter
ENST00000511045.5:c.1198G>T	ENSP00000427679.1:p.Glu400Ter
ENST00000511045.6:c.868G>T	ENSP00000427679.2:p.Glu290Ter
ENST00000619629.1:c.1117G>T	ENSP00000482850.1:p.Glu373Ter