Canonical Allele Identifier: CA357502272

Gene: MTTP

Linked Data

• gnomAD v4: 4-99583452-A-T
• MyVariant Identifiers: chr4:g.100504609A>T (hg19) ; chr4:g.99583452A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583452A>T , CM000666.2:g.99583452A>T	GRCh38
NC_000004.11:g.100504609A>T , CM000666.1:g.100504609A>T	GRCh37
NC_000004.10:g.100723632A>T	NCBI36
NG_011469.1:g.24370A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.328A>T MANE Select	ENSP00000265517.5:p.Ile110Leu
ENST00000457717.6:c.328A>T	ENSP00000400821.1:p.Ile110Leu
ENST00000511045.6:c.79A>T	ENSP00000427679.2:p.Ile27Leu
ENST00000265517.9:c.328A>T	ENSP00000265517.5:p.Ile110Leu
ENST00000422897.6:c.328A>T	ENSP00000407350.2:p.Ile110Leu
ENST00000457717.5:c.328A>T	ENSP00000400821.1:p.Ile110Leu
ENST00000506883.5:c.358A>T	ENSP00000426755.1:p.Ile120Leu
ENST00000511045.5:c.409A>T	ENSP00000427679.1:p.Ile137Leu
ENST00000515141.5:c.*391A>T	ENSP00000425642.1:n.*391A>T
ENST00000619629.1:c.328A>T	ENSP00000482850.1:p.Ile110Leu
NM_000253.3:c.328A>T	NP_000244.2:p.Ile110Leu
NM_001300785.1:c.409A>T	NP_001287714.1:p.Ile137Leu
NM_000253.4:c.328A>T	NP_000244.2:p.Ile110Leu
NM_001300785.2:c.79A>T	NP_001287714.2:p.Ile27Leu
NM_001386140.1:c.328A>T MANE Select	NP_001373069.1:p.Ile110Leu