Canonical Allele Identifier: CA3021749

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99581979C>T , CM000666.2:g.99581979C>T	GRCh38
NC_000004.11:g.100503136C>T , CM000666.1:g.100503136C>T	GRCh37
NC_000004.10:g.100722159C>T	NCBI36
NG_011469.1:g.22897C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001386140.1:c.136C>T MANE Select	NP_001373069.1:p.Arg46Trp
ENST00000265517.10:c.136C>T MANE Select	ENSP00000265517.5:p.Arg46Trp
NM_000253.3:c.136C>T	NP_000244.2:p.Arg46Trp
NM_000253.4:c.136C>T	NP_000244.2:p.Arg46Trp
NM_001300785.1:c.217C>T	NP_001287714.1:p.Arg73Trp
NM_001300785.2:c.-114C>T	NP_001287714.2:n.-114C>T
ENST00000265517.9:c.136C>T	ENSP00000265517.5:p.Arg46Trp
ENST00000422897.6:c.136C>T	ENSP00000407350.2:p.Arg46Trp
ENST00000457717.5:c.136C>T	ENSP00000400821.1:p.Arg46Trp
ENST00000457717.6:c.136C>T	ENSP00000400821.1:p.Arg46Trp
ENST00000505094.5:c.*226C>T	ENSP00000422782.1:n.*226C>T
ENST00000505094.6:c.-114C>T	ENSP00000422782.2:n.-114C>T
ENST00000505142.5:c.*326C>T	ENSP00000425987.1:n.*326C>T
ENST00000506883.5:c.166C>T	ENSP00000426755.1:p.Arg56Trp
ENST00000511045.5:c.217C>T	ENSP00000427679.1:p.Arg73Trp
ENST00000511045.6:c.-114C>T	ENSP00000427679.2:n.-114C>T
ENST00000513404.5:c.*199C>T	ENSP00000424972.1:n.*199C>T
ENST00000515141.5:c.*199C>T	ENSP00000425642.1:n.*199C>T
ENST00000619629.1:c.136C>T	ENSP00000482850.1:p.Arg46Trp