Canonical Allele Identifier: CA357520560

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100543946G>A (hg19) ; chr4:g.99622789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622789G>A , CM000666.2:g.99622789G>A	GRCh38
NC_000004.11:g.100543946G>A , CM000666.1:g.100543946G>A	GRCh37
NC_000004.10:g.100762969G>A	NCBI36
NG_011469.1:g.63707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2626G>A MANE Select	ENSP00000265517.5:p.Glu876Lys
ENST00000457717.6:c.2626G>A	ENSP00000400821.1:p.Glu876Lys
ENST00000511045.6:c.2377G>A	ENSP00000427679.2:p.Glu793Lys
ENST00000265517.9:c.2626G>A	ENSP00000265517.5:p.Glu876Lys
ENST00000457717.5:c.2626G>A	ENSP00000400821.1:p.Glu876Lys
ENST00000511045.5:c.2707G>A	ENSP00000427679.1:p.Glu903Lys
ENST00000619629.1:c.*1073G>A	ENSP00000482850.1:n.*1073G>A
NM_000253.3:c.2626G>A	NP_000244.2:p.Glu876Lys
NM_001300785.1:c.2707G>A	NP_001287714.1:p.Glu903Lys
NM_000253.4:c.2626G>A	NP_000244.2:p.Glu876Lys
NM_001300785.2:c.2377G>A	NP_001287714.2:p.Glu793Lys
NM_001386140.1:c.2626G>A MANE Select	NP_001373069.1:p.Glu876Lys