Canonical Allele Identifier: CA2671534637
Gene: MTTP HGNC NCBI

Linked Data

gnomAD v4: 4-99608752-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99608752C>A , CM000666.2:g.99608752C>A GRCh38
NC_000004.11:g.100529909C>A , CM000666.1:g.100529909C>A GRCh37
NC_000004.10:g.100748932C>A NCBI36
NG_011469.1:g.49670C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.1558-14C>A MANE Select ENSP00000265517.5:n.1558-14C>A
ENST00000457717.6:c.1558-14C>A ENSP00000400821.1:n.1558-14C>A
ENST00000511045.6:c.1309-14C>A ENSP00000427679.2:n.1309-14C>A
ENST00000265517.9:c.1558-14C>A ENSP00000265517.5:n.1558-14C>A
ENST00000457717.5:c.1558-14C>A ENSP00000400821.1:n.1558-14C>A
ENST00000511045.5:c.1639-14C>A ENSP00000427679.1:n.1639-14C>A
ENST00000619629.1:c.*5-14C>A ENSP00000482850.1:n.*5-14C>A
NM_000253.3:c.1558-14C>A NP_000244.2:n.1558-14C>A
NM_001300785.1:c.1639-14C>A NP_001287714.1:n.1639-14C>A
NM_000253.4:c.1558-14C>A NP_000244.2:n.1558-14C>A
NM_001300785.2:c.1309-14C>A NP_001287714.2:n.1309-14C>A
NM_001386140.1:c.1558-14C>A MANE Select NP_001373069.1:n.1558-14C>A