Canonical Allele Identifier: CA916082653

Gene: MTTP

Linked Data

• ClinVar Variation Id: 850460
• ClinVar RCV Id: RCV001054632
• dbSNP Id: rs1725671086

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600613_99600622del , CM000666.2:g.99600613_99600622del	GRCh38
NC_000004.11:g.100521770_100521779del , CM000666.1:g.100521770_100521779del	GRCh37
NC_000004.10:g.100740793_100740802del	NCBI36
NG_011469.1:g.41531_41540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1116_1125del MANE Select	ENSP00000265517.5:p.Leu372PhefsTer?
ENST00000457717.6:c.1116_1125del	ENSP00000400821.1:p.Leu372PhefsTer?
ENST00000511045.6:c.867_876del	ENSP00000427679.2:p.Leu289PhefsTer?
ENST00000265517.9:c.1116_1125del	ENSP00000265517.5:p.Leu372PhefsTer?
ENST00000457717.5:c.1116_1125del	ENSP00000400821.1:p.Leu372PhefsTer?
ENST00000511045.5:c.1197_1206del	ENSP00000427679.1:p.Leu399PhefsTer?
ENST00000619629.1:c.1116_1125del	ENSP00000482850.1:p.Leu372PhefsTer?
NM_000253.3:c.1116_1125del	NP_000244.2:p.Leu372PhefsTer?
NM_001300785.1:c.1197_1206del	NP_001287714.1:p.Leu399PhefsTer?
NM_000253.4:c.1116_1125del	NP_000244.2:p.Leu372PhefsTer?
NM_001300785.2:c.867_876del	NP_001287714.2:p.Leu289PhefsTer?
NM_001386140.1:c.1116_1125del MANE Select	NP_001373069.1:p.Leu372PhefsTer?