Canonical Allele Identifier: CA3022027
Gene: MTTP HGNC NCBI

Linked Data

ClinVar Variation Id: 1170061
ClinVar RCV Id: RCV001522051
dbSNP Id: rs752279560
ExAC: 4:100521710 C / CT
gnomAD v2: 4-100521710-C-CT
gnomAD v3: 4-99600553-C-CT
gnomAD v4: 4-99600553-C-CT
MyVariant Identifiers: chr4:g.100521711_100521712insT (hg19) chr4:g.100521710_100521711insT (hg19) chr4:g.99600554_99600555insT (hg38) chr4:g.99600553_99600554insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600560dup , CM000666.2:g.99600560dup GRCh38
NC_000004.11:g.100521717dup , CM000666.1:g.100521717dup GRCh37
NC_000004.10:g.100740740dup NCBI36
NG_011469.1:g.41478dup

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.1068-5dup MANE Select ENSP00000265517.5:n.1068-5dup
ENST00000457717.6:c.1068-5dup ENSP00000400821.1:n.1068-5dup
ENST00000511045.6:c.819-5dup ENSP00000427679.2:n.819-5dup
ENST00000265517.9:c.1068-5dup ENSP00000265517.5:n.1068-5dup
ENST00000457717.5:c.1068-5dup ENSP00000400821.1:n.1068-5dup
ENST00000511045.5:c.1149-5dup ENSP00000427679.1:n.1149-5dup
ENST00000619629.1:c.1068-5dup ENSP00000482850.1:n.1068-5dup
NM_000253.3:c.1068-5dup NP_000244.2:n.1068-5dup
NM_001300785.1:c.1149-5dup NP_001287714.1:n.1149-5dup
NM_000253.4:c.1068-5dup NP_000244.2:n.1068-5dup
NM_001300785.2:c.819-5dup NP_001287714.2:n.819-5dup
NM_001386140.1:c.1068-5dup MANE Select NP_001373069.1:n.1068-5dup
Search 100 bp 5'
Search 100 bp 3'