Canonical Allele Identifier: CA3022050
Gene: MTTP HGNC NCBI

Linked Data

dbSNP Id: rs776556356
gnomAD v4: 4-99600716-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600716C>A , CM000666.2:g.99600716C>A GRCh38
NC_000004.11:g.100521873C>A , CM000666.1:g.100521873C>A GRCh37
NC_000004.10:g.100740896C>A NCBI36
NG_011469.1:g.41634C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1219C>A MANE Select ENSP00000265517.5:p.Leu407Ile
ENST00000457717.6:c.1219C>A ENSP00000400821.1:p.Leu407Ile
ENST00000511045.6:c.970C>A ENSP00000427679.2:p.Leu324Ile
ENST00000265517.9:c.1219C>A ENSP00000265517.5:p.Leu407Ile
ENST00000457717.5:c.1219C>A ENSP00000400821.1:p.Leu407Ile
ENST00000511045.5:c.1300C>A ENSP00000427679.1:p.Leu434Ile
ENST00000619629.1:c.1219C>A ENSP00000482850.1:p.Leu407Ile
NM_000253.3:c.1219C>A NP_000244.2:p.Leu407Ile
NM_001300785.1:c.1300C>A NP_001287714.1:p.Leu434Ile
NM_000253.4:c.1219C>A NP_000244.2:p.Leu407Ile
NM_001300785.2:c.970C>A NP_001287714.2:p.Leu324Ile
NM_001386140.1:c.1219C>A MANE Select NP_001373069.1:p.Leu407Ile