Canonical Allele Identifier: CA357502399
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583480T>G , CM000666.2:g.99583480T>G GRCh38
NC_000004.11:g.100504637T>G , CM000666.1:g.100504637T>G GRCh37
NC_000004.10:g.100723660T>G NCBI36
NG_011469.1:g.24398T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.356T>G MANE Select ENSP00000265517.5:p.Leu119Arg
ENST00000457717.6:c.356T>G ENSP00000400821.1:p.Leu119Arg
ENST00000511045.6:c.107T>G ENSP00000427679.2:p.Leu36Arg
ENST00000265517.9:c.356T>G ENSP00000265517.5:p.Leu119Arg
ENST00000422897.6:c.356T>G ENSP00000407350.2:p.Leu119Arg
ENST00000457717.5:c.356T>G ENSP00000400821.1:p.Leu119Arg
ENST00000506883.5:c.386T>G ENSP00000426755.1:p.Leu129Arg
ENST00000511045.5:c.437T>G ENSP00000427679.1:p.Leu146Arg
ENST00000619629.1:c.356T>G ENSP00000482850.1:p.Leu119Arg
NM_000253.3:c.356T>G NP_000244.2:p.Leu119Arg
NM_001300785.1:c.437T>G NP_001287714.1:p.Leu146Arg
NM_000253.4:c.356T>G NP_000244.2:p.Leu119Arg
NM_001300785.2:c.107T>G NP_001287714.2:p.Leu36Arg
NM_001386140.1:c.356T>G MANE Select NP_001373069.1:p.Leu119Arg