Canonical Allele Identifier: CA357508416

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100521829G>A (hg19) ; chr4:g.99600672G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600672G>A , CM000666.2:g.99600672G>A	GRCh38
NC_000004.11:g.100521829G>A , CM000666.1:g.100521829G>A	GRCh37
NC_000004.10:g.100740852G>A	NCBI36
NG_011469.1:g.41590G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1175G>A MANE Select	ENSP00000265517.5:p.Arg392Lys
ENST00000457717.6:c.1175G>A	ENSP00000400821.1:p.Arg392Lys
ENST00000511045.6:c.926G>A	ENSP00000427679.2:p.Arg309Lys
ENST00000265517.9:c.1175G>A	ENSP00000265517.5:p.Arg392Lys
ENST00000457717.5:c.1175G>A	ENSP00000400821.1:p.Arg392Lys
ENST00000511045.5:c.1256G>A	ENSP00000427679.1:p.Arg419Lys
ENST00000619629.1:c.1175G>A	ENSP00000482850.1:p.Arg392Lys
NM_000253.3:c.1175G>A	NP_000244.2:p.Arg392Lys
NM_001300785.1:c.1256G>A	NP_001287714.1:p.Arg419Lys
NM_000253.4:c.1175G>A	NP_000244.2:p.Arg392Lys
NM_001300785.2:c.926G>A	NP_001287714.2:p.Arg309Lys
NM_001386140.1:c.1175G>A MANE Select	NP_001373069.1:p.Arg392Lys