Canonical Allele Identifier: CA357502175

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100504586T>G (hg19) ; chr4:g.99583429T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583429T>G , CM000666.2:g.99583429T>G	GRCh38
NC_000004.11:g.100504586T>G , CM000666.1:g.100504586T>G	GRCh37
NC_000004.10:g.100723609T>G	NCBI36
NG_011469.1:g.24347T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.305T>G MANE Select	ENSP00000265517.5:p.Phe102Cys
ENST00000457717.6:c.305T>G	ENSP00000400821.1:p.Phe102Cys
ENST00000511045.6:c.56T>G	ENSP00000427679.2:p.Phe19Cys
ENST00000265517.9:c.305T>G	ENSP00000265517.5:p.Phe102Cys
ENST00000422897.6:c.305T>G	ENSP00000407350.2:p.Phe102Cys
ENST00000457717.5:c.305T>G	ENSP00000400821.1:p.Phe102Cys
ENST00000506883.5:c.335T>G	ENSP00000426755.1:p.Phe112Cys
ENST00000511045.5:c.386T>G	ENSP00000427679.1:p.Phe129Cys
ENST00000515141.5:c.*368T>G	ENSP00000425642.1:n.*368T>G
ENST00000619629.1:c.305T>G	ENSP00000482850.1:p.Phe102Cys
NM_000253.3:c.305T>G	NP_000244.2:p.Phe102Cys
NM_001300785.1:c.386T>G	NP_001287714.1:p.Phe129Cys
NM_000253.4:c.305T>G	NP_000244.2:p.Phe102Cys
NM_001300785.2:c.56T>G	NP_001287714.2:p.Phe19Cys
NM_001386140.1:c.305T>G MANE Select	NP_001373069.1:p.Phe102Cys