Canonical Allele Identifier: CA357502481

Gene: MTTP

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583513G>A , CM000666.2:g.99583513G>A	GRCh38
NC_000004.11:g.100504670G>A , CM000666.1:g.100504670G>A	GRCh37
NC_000004.10:g.100723693G>A	NCBI36
NG_011469.1:g.24431G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.389G>A MANE Select	ENSP00000265517.5:p.Gly130Glu
ENST00000457717.6:c.389G>A	ENSP00000400821.1:p.Gly130Glu
ENST00000511045.6:c.140G>A	ENSP00000427679.2:p.Gly47Glu
ENST00000265517.9:c.389G>A	ENSP00000265517.5:p.Gly130Glu
ENST00000422897.6:c.389G>A	ENSP00000407350.2:p.Gly130Glu
ENST00000457717.5:c.389G>A	ENSP00000400821.1:p.Gly130Glu
ENST00000506883.5:c.419G>A	ENSP00000426755.1:p.Gly140Glu
ENST00000511045.5:c.470G>A	ENSP00000427679.1:p.Gly157Glu
ENST00000619629.1:c.389G>A	ENSP00000482850.1:p.Gly130Glu
NM_000253.3:c.389G>A	NP_000244.2:p.Gly130Glu
NM_001300785.1:c.470G>A	NP_001287714.1:p.Gly157Glu
NM_000253.4:c.389G>A	NP_000244.2:p.Gly130Glu
NM_001300785.2:c.140G>A	NP_001287714.2:p.Gly47Glu
NM_001386140.1:c.389G>A MANE Select	NP_001373069.1:p.Gly130Glu