Canonical Allele Identifier: CA357507214

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99597224T>G , CM000666.2:g.99597224T>G	GRCh38
NC_000004.11:g.100518381T>G , CM000666.1:g.100518381T>G	GRCh37
NC_000004.10:g.100737404T>G	NCBI36
NG_011469.1:g.38142T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001386140.1:c.1067T>G MANE Select	NP_001373069.1:p.Leu356Ter
ENST00000265517.10:c.1067T>G MANE Select	ENSP00000265517.5:p.Leu356Ter
NM_000253.3:c.1067T>G	NP_000244.2:p.Leu356Ter
NM_000253.4:c.1067T>G	NP_000244.2:p.Leu356Ter
NM_001300785.1:c.1148T>G	NP_001287714.1:p.Leu383Ter
NM_001300785.2:c.818T>G	NP_001287714.2:p.Leu273Ter
ENST00000265517.9:c.1067T>G	ENSP00000265517.5:p.Leu356Ter
ENST00000457717.5:c.1067T>G	ENSP00000400821.1:p.Leu356Ter
ENST00000457717.6:c.1067T>G	ENSP00000400821.1:p.Leu356Ter
ENST00000511045.5:c.1148T>G	ENSP00000427679.1:p.Leu383Ter
ENST00000511045.6:c.818T>G	ENSP00000427679.2:p.Leu273Ter
ENST00000619629.1:c.1067T>G	ENSP00000482850.1:p.Leu356Ter