Canonical Allele Identifier: CA123820

Gene: MTTP

Linked Data

• ClinVar Variation Id: 14238
• ClinVar RCV Id: RCV000015306 ; RCV001222493
• dbSNP Id: rs199422220
• ExAC: 4:100529984 G / A
• gnomAD v2: 4-100529984-G-A
• gnomAD v3: 4-99608827-G-A
• gnomAD v4: 4-99608827-G-A
• COSMIC: COSM2951462
• MyVariant Identifiers: chr4:g.100529984G>A (hg19) ; chr4:g.99608827G>A (hg38)
• PubMed: PMID:1439810 ; PMID:8939939

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99608827G>A , CM000666.2:g.99608827G>A	GRCh38
NC_000004.11:g.100529984G>A , CM000666.1:g.100529984G>A	GRCh37
NC_000004.10:g.100749007G>A	NCBI36
NG_011469.1:g.49745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1619G>A MANE Select	ENSP00000265517.5:p.Arg540His
ENST00000457717.6:c.1619G>A	ENSP00000400821.1:p.Arg540His
ENST00000511045.6:c.1370G>A	ENSP00000427679.2:p.Arg457His
ENST00000265517.9:c.1619G>A	ENSP00000265517.5:p.Arg540His
ENST00000457717.5:c.1619G>A	ENSP00000400821.1:p.Arg540His
ENST00000511045.5:c.1700G>A	ENSP00000427679.1:p.Arg567His
ENST00000619629.1:c.*66G>A	ENSP00000482850.1:n.*66G>A
NM_000253.3:c.1619G>A	NP_000244.2:p.Arg540His
NM_001300785.1:c.1700G>A	NP_001287714.1:p.Arg567His
NM_000253.4:c.1619G>A	NP_000244.2:p.Arg540His
NM_001300785.2:c.1370G>A	NP_001287714.2:p.Arg457His
NM_001386140.1:c.1619G>A MANE Select	NP_001373069.1:p.Arg540His