Canonical Allele Identifier: CA357517171

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99613048G>T , CM000666.2:g.99613048G>T	GRCh38
NC_000004.11:g.100534205G>T , CM000666.1:g.100534205G>T	GRCh37
NC_000004.10:g.100753228G>T	NCBI36
NG_011469.1:g.53966G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001386140.1:c.2125G>T MANE Select	NP_001373069.1:p.Gly709Ter
ENST00000265517.10:c.2125G>T MANE Select	ENSP00000265517.5:p.Gly709Ter
NM_000253.3:c.2125G>T	NP_000244.2:p.Gly709Ter
NM_000253.4:c.2125G>T	NP_000244.2:p.Gly709Ter
NM_001300785.1:c.2206G>T	NP_001287714.1:p.Gly736Ter
NM_001300785.2:c.1876G>T	NP_001287714.2:p.Gly626Ter
ENST00000265517.9:c.2125G>T	ENSP00000265517.5:p.Gly709Ter
ENST00000457717.5:c.2125G>T	ENSP00000400821.1:p.Gly709Ter
ENST00000457717.6:c.2125G>T	ENSP00000400821.1:p.Gly709Ter
ENST00000511045.5:c.2206G>T	ENSP00000427679.1:p.Gly736Ter
ENST00000511045.6:c.1876G>T	ENSP00000427679.2:p.Gly626Ter
ENST00000619629.1:c.*572G>T	ENSP00000482850.1:n.*572G>T