Canonical Allele Identifier: CA357502446

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100504654C>A (hg19) ; chr4:g.99583497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583497C>A , CM000666.2:g.99583497C>A	GRCh38
NC_000004.11:g.100504654C>A , CM000666.1:g.100504654C>A	GRCh37
NC_000004.10:g.100723677C>A	NCBI36
NG_011469.1:g.24415C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.373C>A MANE Select	ENSP00000265517.5:p.Leu125Ile
ENST00000457717.6:c.373C>A	ENSP00000400821.1:p.Leu125Ile
ENST00000511045.6:c.124C>A	ENSP00000427679.2:p.Leu42Ile
ENST00000265517.9:c.373C>A	ENSP00000265517.5:p.Leu125Ile
ENST00000422897.6:c.373C>A	ENSP00000407350.2:p.Leu125Ile
ENST00000457717.5:c.373C>A	ENSP00000400821.1:p.Leu125Ile
ENST00000506883.5:c.403C>A	ENSP00000426755.1:p.Leu135Ile
ENST00000511045.5:c.454C>A	ENSP00000427679.1:p.Leu152Ile
ENST00000619629.1:c.373C>A	ENSP00000482850.1:p.Leu125Ile
NM_000253.3:c.373C>A	NP_000244.2:p.Leu125Ile
NM_001300785.1:c.454C>A	NP_001287714.1:p.Leu152Ile
NM_000253.4:c.373C>A	NP_000244.2:p.Leu125Ile
NM_001300785.2:c.124C>A	NP_001287714.2:p.Leu42Ile
NM_001386140.1:c.373C>A MANE Select	NP_001373069.1:p.Leu125Ile