Canonical Allele Identifier: CA3021869
Community Standard Title: NM_001386140.1(MTTP):c.502-42C>T
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99591193C>T , CM000666.2:g.99591193C>T GRCh38
NC_000004.11:g.100512350C>T , CM000666.1:g.100512350C>T GRCh37
NC_000004.10:g.100731373C>T NCBI36
NG_011469.1:g.32111C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001386140.1:c.502-42C>T MANE Select NP_001373069.1:n.502-42C>T
ENST00000265517.10:c.502-42C>T MANE Select ENSP00000265517.5:n.502-42C>T
NM_000253.3:c.502-42C>T NP_000244.2:n.502-42C>T
NM_000253.4:c.502-42C>T NP_000244.2:n.502-42C>T
NM_001300785.1:c.583-42C>T NP_001287714.1:n.583-42C>T
NM_001300785.2:c.253-42C>T NP_001287714.2:n.253-42C>T
ENST00000265517.9:c.502-42C>T ENSP00000265517.5:n.502-42C>T
ENST00000457717.5:c.502-42C>T ENSP00000400821.1:n.502-42C>T
ENST00000457717.6:c.502-42C>T ENSP00000400821.1:n.502-42C>T
ENST00000506883.5:c.532-42C>T ENSP00000426755.1:n.532-42C>T
ENST00000511045.5:c.583-42C>T ENSP00000427679.1:n.583-42C>T
ENST00000511045.6:c.253-42C>T ENSP00000427679.2:n.253-42C>T
ENST00000619629.1:c.502-42C>T ENSP00000482850.1:n.502-42C>T