Canonical Allele Identifier: CA357508406
Gene: MTTP HGNC NCBI

Linked Data

dbSNP Id: rs1471365282
gnomAD v3: 4-99600671-A-G
gnomAD v4: 4-99600671-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600671A>G , CM000666.2:g.99600671A>G GRCh38
NC_000004.11:g.100521828A>G , CM000666.1:g.100521828A>G GRCh37
NC_000004.10:g.100740851A>G NCBI36
NG_011469.1:g.41589A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1174A>G MANE Select ENSP00000265517.5:p.Arg392Gly
ENST00000457717.6:c.1174A>G ENSP00000400821.1:p.Arg392Gly
ENST00000511045.6:c.925A>G ENSP00000427679.2:p.Arg309Gly
ENST00000265517.9:c.1174A>G ENSP00000265517.5:p.Arg392Gly
ENST00000457717.5:c.1174A>G ENSP00000400821.1:p.Arg392Gly
ENST00000511045.5:c.1255A>G ENSP00000427679.1:p.Arg419Gly
ENST00000619629.1:c.1174A>G ENSP00000482850.1:p.Arg392Gly
NM_000253.3:c.1174A>G NP_000244.2:p.Arg392Gly
NM_001300785.1:c.1255A>G NP_001287714.1:p.Arg419Gly
NM_000253.4:c.1174A>G NP_000244.2:p.Arg392Gly
NM_001300785.2:c.925A>G NP_001287714.2:p.Arg309Gly
NM_001386140.1:c.1174A>G MANE Select NP_001373069.1:p.Arg392Gly