Canonical Allele Identifier: CA2739270169
Gene: MTTP HGNC NCBI

Linked Data

ClinVar Variation Id: 2859894
ClinVar RCV Id: RCV003702064

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600548dup , CM000666.2:g.99600548dup GRCh38
NC_000004.11:g.100521705dup , CM000666.1:g.100521705dup GRCh37
NC_000004.10:g.100740728dup NCBI36
NG_011469.1:g.41466dup

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.1068-17dup MANE Select ENSP00000265517.5:n.1068-17dup
ENST00000457717.6:c.1068-17dup ENSP00000400821.1:n.1068-17dup
ENST00000511045.6:c.819-17dup ENSP00000427679.2:n.819-17dup
ENST00000265517.9:c.1068-17dup ENSP00000265517.5:n.1068-17dup
ENST00000457717.5:c.1068-17dup ENSP00000400821.1:n.1068-17dup
ENST00000511045.5:c.1149-17dup ENSP00000427679.1:n.1149-17dup
ENST00000619629.1:c.1068-17dup ENSP00000482850.1:n.1068-17dup
NM_000253.3:c.1068-17dup NP_000244.2:n.1068-17dup
NM_001300785.1:c.1149-17dup NP_001287714.1:n.1149-17dup
NM_000253.4:c.1068-17dup NP_000244.2:n.1068-17dup
NM_001300785.2:c.819-17dup NP_001287714.2:n.819-17dup
NM_001386140.1:c.1068-17dup MANE Select NP_001373069.1:n.1068-17dup