Canonical Allele Identifier: CA553568530

Gene: MTTP

Linked Data

• dbSNP Id: rs1188833085
• gnomAD v2: 4-100544074-T-A
• gnomAD v3: 4-99622917-T-A
• gnomAD v4: 4-99622917-T-A
• MyVariant Identifiers: chr4:g.100544074T>A (hg19) ; chr4:g.99622917T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622917T>A , CM000666.2:g.99622917T>A	GRCh38
NC_000004.11:g.100544074T>A , CM000666.1:g.100544074T>A	GRCh37
NC_000004.10:g.100763097T>A	NCBI36
NG_011469.1:g.63835T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.*69T>A MANE Select	ENSP00000265517.5:n.*69T>A
ENST00000457717.6:c.*69T>A	ENSP00000400821.1:n.*69T>A
ENST00000511045.6:c.*69T>A	ENSP00000427679.2:n.*69T>A
ENST00000265517.9:c.*69T>A	ENSP00000265517.5:n.*69T>A
ENST00000457717.5:c.*69T>A	ENSP00000400821.1:n.*69T>A
ENST00000511045.5:c.*69T>A	ENSP00000427679.1:n.*69T>A
ENST00000619629.1:c.*1201T>A	ENSP00000482850.1:n.*1201T>A
NM_000253.3:c.*69T>A	NP_000244.2:n.*69T>A
NM_001300785.1:c.*69T>A	NP_001287714.1:n.*69T>A
NM_000253.4:c.*69T>A	NP_000244.2:n.*69T>A
NM_001300785.2:c.*69T>A	NP_001287714.2:n.*69T>A
NM_001386140.1:c.*69T>A MANE Select	NP_001373069.1:n.*69T>A