Canonical Allele Identifier: CA357502317

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100504619A>G (hg19) ; chr4:g.99583462A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583462A>G , CM000666.2:g.99583462A>G	GRCh38
NC_000004.11:g.100504619A>G , CM000666.1:g.100504619A>G	GRCh37
NC_000004.10:g.100723642A>G	NCBI36
NG_011469.1:g.24380A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.338A>G MANE Select	ENSP00000265517.5:p.Lys113Arg
ENST00000457717.6:c.338A>G	ENSP00000400821.1:p.Lys113Arg
ENST00000511045.6:c.89A>G	ENSP00000427679.2:p.Lys30Arg
ENST00000265517.9:c.338A>G	ENSP00000265517.5:p.Lys113Arg
ENST00000422897.6:c.338A>G	ENSP00000407350.2:p.Lys113Arg
ENST00000457717.5:c.338A>G	ENSP00000400821.1:p.Lys113Arg
ENST00000506883.5:c.368A>G	ENSP00000426755.1:p.Lys123Arg
ENST00000511045.5:c.419A>G	ENSP00000427679.1:p.Lys140Arg
ENST00000515141.5:c.*401A>G	ENSP00000425642.1:n.*401A>G
ENST00000619629.1:c.338A>G	ENSP00000482850.1:p.Lys113Arg
NM_000253.3:c.338A>G	NP_000244.2:p.Lys113Arg
NM_001300785.1:c.419A>G	NP_001287714.1:p.Lys140Arg
NM_000253.4:c.338A>G	NP_000244.2:p.Lys113Arg
NM_001300785.2:c.89A>G	NP_001287714.2:p.Lys30Arg
NM_001386140.1:c.338A>G MANE Select	NP_001373069.1:p.Lys113Arg