Canonical Allele Identifier: CA357502491
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583517G>T , CM000666.2:g.99583517G>T GRCh38
NC_000004.11:g.100504674G>T , CM000666.1:g.100504674G>T GRCh37
NC_000004.10:g.100723697G>T NCBI36
NG_011469.1:g.24435G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.393G>T MANE Select ENSP00000265517.5:p.Lys131Asn
ENST00000457717.6:c.393G>T ENSP00000400821.1:p.Lys131Asn
ENST00000511045.6:c.144G>T ENSP00000427679.2:p.Lys48Asn
ENST00000265517.9:c.393G>T ENSP00000265517.5:p.Lys131Asn
ENST00000422897.6:c.393G>T ENSP00000407350.2:p.Lys131Asn
ENST00000457717.5:c.393G>T ENSP00000400821.1:p.Lys131Asn
ENST00000506883.5:c.423G>T ENSP00000426755.1:p.Lys141Asn
ENST00000511045.5:c.474G>T ENSP00000427679.1:p.Lys158Asn
ENST00000619629.1:c.393G>T ENSP00000482850.1:p.Lys131Asn
NM_000253.3:c.393G>T NP_000244.2:p.Lys131Asn
NM_001300785.1:c.474G>T NP_001287714.1:p.Lys158Asn
NM_000253.4:c.393G>T NP_000244.2:p.Lys131Asn
NM_001300785.2:c.144G>T NP_001287714.2:p.Lys48Asn
NM_001386140.1:c.393G>T MANE Select NP_001373069.1:p.Lys131Asn