Canonical Allele Identifier: CA357516596

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99612944T>A , CM000666.2:g.99612944T>A	GRCh38
NC_000004.11:g.100534101T>A , CM000666.1:g.100534101T>A	GRCh37
NC_000004.10:g.100753124T>A	NCBI36
NG_011469.1:g.53862T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001386140.1:c.2021T>A MANE Select	NP_001373069.1:p.Leu674Ter
ENST00000265517.10:c.2021T>A MANE Select	ENSP00000265517.5:p.Leu674Ter
NM_000253.3:c.2021T>A	NP_000244.2:p.Leu674Ter
NM_000253.4:c.2021T>A	NP_000244.2:p.Leu674Ter
NM_001300785.1:c.2102T>A	NP_001287714.1:p.Leu701Ter
NM_001300785.2:c.1772T>A	NP_001287714.2:p.Leu591Ter
ENST00000265517.9:c.2021T>A	ENSP00000265517.5:p.Leu674Ter
ENST00000457717.5:c.2021T>A	ENSP00000400821.1:p.Leu674Ter
ENST00000457717.6:c.2021T>A	ENSP00000400821.1:p.Leu674Ter
ENST00000511045.5:c.2102T>A	ENSP00000427679.1:p.Leu701Ter
ENST00000511045.6:c.1772T>A	ENSP00000427679.2:p.Leu591Ter
ENST00000619629.1:c.*468T>A	ENSP00000482850.1:n.*468T>A