Canonical Allele Identifier: CA357502494
Gene: MTTP HGNC NCBI

Linked Data

gnomAD v4: 4-99583518-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583518G>A , CM000666.2:g.99583518G>A GRCh38
NC_000004.11:g.100504675G>A , CM000666.1:g.100504675G>A GRCh37
NC_000004.10:g.100723698G>A NCBI36
NG_011469.1:g.24436G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.393+1G>A MANE Select ENSP00000265517.5:n.393+1G>A
ENST00000457717.6:c.393+1G>A ENSP00000400821.1:n.393+1G>A
ENST00000511045.6:c.144+1G>A ENSP00000427679.2:n.144+1G>A
ENST00000265517.9:c.393+1G>A ENSP00000265517.5:n.393+1G>A
ENST00000422897.6:c.394G>A ENSP00000407350.2:p.Val132Ile
ENST00000457717.5:c.393+1G>A ENSP00000400821.1:n.393+1G>A
ENST00000506883.5:c.423+1G>A ENSP00000426755.1:n.423+1G>A
ENST00000511045.5:c.474+1G>A ENSP00000427679.1:n.474+1G>A
ENST00000619629.1:c.393+1G>A ENSP00000482850.1:n.393+1G>A
NM_000253.3:c.393+1G>A NP_000244.2:n.393+1G>A
NM_001300785.1:c.474+1G>A NP_001287714.1:n.474+1G>A
NM_000253.4:c.393+1G>A NP_000244.2:n.393+1G>A
NM_001300785.2:c.144+1G>A NP_001287714.2:n.144+1G>A
NM_001386140.1:c.393+1G>A MANE Select NP_001373069.1:n.393+1G>A