Canonical Allele Identifier: CA2573138379

Gene: MTTP

Linked Data

• ClinVar Variation Id: 1412047
• ClinVar RCV Id: RCV001918980
• dbSNP Id: rs2110224707

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600723_99600724delinsTT , CM000666.2:g.99600723_99600724delinsTT	GRCh38
NC_000004.11:g.100521880_100521881delinsTT , CM000666.1:g.100521880_100521881delinsTT	GRCh37
NC_000004.10:g.100740903_100740904delinsTT	NCBI36
NG_011469.1:g.41641_41642delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1226_1227delinsTT MANE Select	ENSP00000265517.5:p.Arg409Ile
ENST00000457717.6:c.1226_1227delinsTT	ENSP00000400821.1:p.Arg409Ile
ENST00000511045.6:c.977_978delinsTT	ENSP00000427679.2:p.Arg326Ile
ENST00000265517.9:c.1226_1227delinsTT	ENSP00000265517.5:p.Arg409Ile
ENST00000457717.5:c.1226_1227delinsTT	ENSP00000400821.1:p.Arg409Ile
ENST00000511045.5:c.1307_1308delinsTT	ENSP00000427679.1:p.Arg436Ile
ENST00000619629.1:c.1226_1227delinsTT	ENSP00000482850.1:p.Arg409Ile
NM_000253.3:c.1226_1227delinsTT	NP_000244.2:p.Arg409Ile
NM_001300785.1:c.1307_1308delinsTT	NP_001287714.1:p.Arg436Ile
NM_000253.4:c.1226_1227delinsTT	NP_000244.2:p.Arg409Ile
NM_001300785.2:c.977_978delinsTT	NP_001287714.2:p.Arg326Ile
NM_001386140.1:c.1226_1227delinsTT MANE Select	NP_001373069.1:p.Arg409Ile