Canonical Allele Identifier: CA357500681

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99581957C>G , CM000666.2:g.99581957C>G	GRCh38
NC_000004.11:g.100503114C>G , CM000666.1:g.100503114C>G	GRCh37
NC_000004.10:g.100722137C>G	NCBI36
NG_011469.1:g.22875C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001386140.1:c.114C>G MANE Select	NP_001373069.1:p.Tyr38Ter
ENST00000265517.10:c.114C>G MANE Select	ENSP00000265517.5:p.Tyr38Ter
NM_000253.3:c.114C>G	NP_000244.2:p.Tyr38Ter
NM_000253.4:c.114C>G	NP_000244.2:p.Tyr38Ter
NM_001300785.1:c.195C>G	NP_001287714.1:p.Tyr65Ter
NM_001300785.2:c.-136C>G	NP_001287714.2:n.-136C>G
ENST00000265517.9:c.114C>G	ENSP00000265517.5:p.Tyr38Ter
ENST00000422897.6:c.114C>G	ENSP00000407350.2:p.Tyr38Ter
ENST00000457717.5:c.114C>G	ENSP00000400821.1:p.Tyr38Ter
ENST00000457717.6:c.114C>G	ENSP00000400821.1:p.Tyr38Ter
ENST00000505094.5:c.*204C>G	ENSP00000422782.1:n.*204C>G
ENST00000505094.6:c.-136C>G	ENSP00000422782.2:n.-136C>G
ENST00000505142.5:c.*304C>G	ENSP00000425987.1:n.*304C>G
ENST00000506883.5:c.144C>G	ENSP00000426755.1:p.Tyr48Ter
ENST00000511045.5:c.195C>G	ENSP00000427679.1:p.Tyr65Ter
ENST00000511045.6:c.-136C>G	ENSP00000427679.2:n.-136C>G
ENST00000511610.5:c.*304C>G	ENSP00000422178.1:n.*304C>G
ENST00000511610.6:c.114C>G	ENSP00000422178.2:p.Tyr38Ter
ENST00000513404.5:c.*177C>G	ENSP00000424972.1:n.*177C>G
ENST00000515141.5:c.*177C>G	ENSP00000425642.1:n.*177C>G
ENST00000619629.1:c.114C>G	ENSP00000482850.1:p.Tyr38Ter