Canonical Allele Identifier: CA3021746

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99581967G>A , CM000666.2:g.99581967G>A	GRCh38
NC_000004.11:g.100503124G>A , CM000666.1:g.100503124G>A	GRCh37
NC_000004.10:g.100722147G>A	NCBI36
NG_011469.1:g.22885G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001386140.1:c.124G>A MANE Select	NP_001373069.1:p.Val42Ile
ENST00000265517.10:c.124G>A MANE Select	ENSP00000265517.5:p.Val42Ile
NM_000253.3:c.124G>A	NP_000244.2:p.Val42Ile
NM_000253.4:c.124G>A	NP_000244.2:p.Val42Ile
NM_001300785.1:c.205G>A	NP_001287714.1:p.Val69Ile
NM_001300785.2:c.-126G>A	NP_001287714.2:n.-126G>A
ENST00000265517.9:c.124G>A	ENSP00000265517.5:p.Val42Ile
ENST00000422897.6:c.124G>A	ENSP00000407350.2:p.Val42Ile
ENST00000457717.5:c.124G>A	ENSP00000400821.1:p.Val42Ile
ENST00000457717.6:c.124G>A	ENSP00000400821.1:p.Val42Ile
ENST00000505094.5:c.*214G>A	ENSP00000422782.1:n.*214G>A
ENST00000505094.6:c.-126G>A	ENSP00000422782.2:n.-126G>A
ENST00000505142.5:c.*314G>A	ENSP00000425987.1:n.*314G>A
ENST00000506883.5:c.154G>A	ENSP00000426755.1:p.Val52Ile
ENST00000511045.5:c.205G>A	ENSP00000427679.1:p.Val69Ile
ENST00000511045.6:c.-126G>A	ENSP00000427679.2:n.-126G>A
ENST00000511610.5:c.*314G>A	ENSP00000422178.1:n.*314G>A
ENST00000511610.6:c.124G>A	ENSP00000422178.2:p.Val42Ile
ENST00000513404.5:c.*187G>A	ENSP00000424972.1:n.*187G>A
ENST00000515141.5:c.*187G>A	ENSP00000425642.1:n.*187G>A
ENST00000619629.1:c.124G>A	ENSP00000482850.1:p.Val42Ile