Canonical Allele Identifier: CA357505663

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100515900G>A (hg19) ; chr4:g.99594743G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99594743G>A , CM000666.2:g.99594743G>A	GRCh38
NC_000004.11:g.100515900G>A , CM000666.1:g.100515900G>A	GRCh37
NC_000004.10:g.100734923G>A	NCBI36
NG_011469.1:g.35661G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.769G>A MANE Select	ENSP00000265517.5:p.Glu257Lys
ENST00000457717.6:c.769G>A	ENSP00000400821.1:p.Glu257Lys
ENST00000511045.6:c.520G>A	ENSP00000427679.2:p.Glu174Lys
ENST00000265517.9:c.769G>A	ENSP00000265517.5:p.Glu257Lys
ENST00000457717.5:c.769G>A	ENSP00000400821.1:p.Glu257Lys
ENST00000511045.5:c.850G>A	ENSP00000427679.1:p.Glu284Lys
ENST00000619629.1:c.769G>A	ENSP00000482850.1:p.Glu257Lys
NM_000253.3:c.769G>A	NP_000244.2:p.Glu257Lys
NM_001300785.1:c.850G>A	NP_001287714.1:p.Glu284Lys
NM_000253.4:c.769G>A	NP_000244.2:p.Glu257Lys
NM_001300785.2:c.520G>A	NP_001287714.2:p.Glu174Lys
NM_001386140.1:c.769G>A MANE Select	NP_001373069.1:p.Glu257Lys