Canonical Allele Identifier: CA357502541
Gene: MTTP HGNC NCBI

Linked Data

gnomAD v4: 4-99583542-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583542A>G , CM000666.2:g.99583542A>G GRCh38
NC_000004.11:g.100504699A>G , CM000666.1:g.100504699A>G GRCh37
NC_000004.10:g.100723722A>G NCBI36
NG_011469.1:g.24460A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.393+25A>G MANE Select ENSP00000265517.5:n.393+25A>G
ENST00000457717.6:c.393+25A>G ENSP00000400821.1:n.393+25A>G
ENST00000511045.6:c.144+25A>G ENSP00000427679.2:n.144+25A>G
ENST00000265517.9:c.393+25A>G ENSP00000265517.5:n.393+25A>G
ENST00000422897.6:c.418A>G ENSP00000407350.2:p.Thr140Ala
ENST00000457717.5:c.393+25A>G ENSP00000400821.1:n.393+25A>G
ENST00000506883.5:c.423+25A>G ENSP00000426755.1:n.423+25A>G
ENST00000511045.5:c.474+25A>G ENSP00000427679.1:n.474+25A>G
ENST00000619629.1:c.393+25A>G ENSP00000482850.1:n.393+25A>G
NM_000253.3:c.393+25A>G NP_000244.2:n.393+25A>G
NM_001300785.1:c.474+25A>G NP_001287714.1:n.474+25A>G
NM_000253.4:c.393+25A>G NP_000244.2:n.393+25A>G
NM_001300785.2:c.144+25A>G NP_001287714.2:n.144+25A>G
NM_001386140.1:c.393+25A>G MANE Select NP_001373069.1:n.393+25A>G