Canonical Allele Identifier: CA357502477

Gene: MTTP

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583511T>G , CM000666.2:g.99583511T>G	GRCh38
NC_000004.11:g.100504668T>G , CM000666.1:g.100504668T>G	GRCh37
NC_000004.10:g.100723691T>G	NCBI36
NG_011469.1:g.24429T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.387T>G MANE Select	ENSP00000265517.5:p.His129Gln
ENST00000457717.6:c.387T>G	ENSP00000400821.1:p.His129Gln
ENST00000511045.6:c.138T>G	ENSP00000427679.2:p.His46Gln
ENST00000265517.9:c.387T>G	ENSP00000265517.5:p.His129Gln
ENST00000422897.6:c.387T>G	ENSP00000407350.2:p.His129Gln
ENST00000457717.5:c.387T>G	ENSP00000400821.1:p.His129Gln
ENST00000506883.5:c.417T>G	ENSP00000426755.1:p.His139Gln
ENST00000511045.5:c.468T>G	ENSP00000427679.1:p.His156Gln
ENST00000619629.1:c.387T>G	ENSP00000482850.1:p.His129Gln
NM_000253.3:c.387T>G	NP_000244.2:p.His129Gln
NM_001300785.1:c.468T>G	NP_001287714.1:p.His156Gln
NM_000253.4:c.387T>G	NP_000244.2:p.His129Gln
NM_001300785.2:c.138T>G	NP_001287714.2:p.His46Gln
NM_001386140.1:c.387T>G MANE Select	NP_001373069.1:p.His129Gln