Canonical Allele Identifier: CA357504580
Community Standard Title: NM_001386140.1(MTTP):c.583A>T (p.Lys195Ter)
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99591316A>T , CM000666.2:g.99591316A>T GRCh38
NC_000004.11:g.100512473A>T , CM000666.1:g.100512473A>T GRCh37
NC_000004.10:g.100731496A>T NCBI36
NG_011469.1:g.32234A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001386140.1:c.583A>T MANE Select NP_001373069.1:p.Lys195Ter
ENST00000265517.10:c.583A>T MANE Select ENSP00000265517.5:p.Lys195Ter
NM_000253.3:c.583A>T NP_000244.2:p.Lys195Ter
NM_000253.4:c.583A>T NP_000244.2:p.Lys195Ter
NM_001300785.1:c.664A>T NP_001287714.1:p.Lys222Ter
NM_001300785.2:c.334A>T NP_001287714.2:p.Lys112Ter
ENST00000265517.9:c.583A>T ENSP00000265517.5:p.Lys195Ter
ENST00000457717.5:c.583A>T ENSP00000400821.1:p.Lys195Ter
ENST00000457717.6:c.583A>T ENSP00000400821.1:p.Lys195Ter
ENST00000511045.5:c.664A>T ENSP00000427679.1:p.Lys222Ter
ENST00000511045.6:c.334A>T ENSP00000427679.2:p.Lys112Ter
ENST00000619629.1:c.583A>T ENSP00000482850.1:p.Lys195Ter