Canonical Allele Identifier: CA357520342
Gene: MTTP HGNC NCBI

Linked Data

gnomAD v4: 4-99622739-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99622739A>G , CM000666.2:g.99622739A>G GRCh38
NC_000004.11:g.100543896A>G , CM000666.1:g.100543896A>G GRCh37
NC_000004.10:g.100762919A>G NCBI36
NG_011469.1:g.63657A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.2576A>G MANE Select ENSP00000265517.5:p.Lys859Arg
ENST00000457717.6:c.2576A>G ENSP00000400821.1:p.Lys859Arg
ENST00000511045.6:c.2327A>G ENSP00000427679.2:p.Lys776Arg
ENST00000265517.9:c.2576A>G ENSP00000265517.5:p.Lys859Arg
ENST00000457717.5:c.2576A>G ENSP00000400821.1:p.Lys859Arg
ENST00000511045.5:c.2657A>G ENSP00000427679.1:p.Lys886Arg
ENST00000619629.1:c.*1023A>G ENSP00000482850.1:n.*1023A>G
NM_000253.3:c.2576A>G NP_000244.2:p.Lys859Arg
NM_001300785.1:c.2657A>G NP_001287714.1:p.Lys886Arg
NM_000253.4:c.2576A>G NP_000244.2:p.Lys859Arg
NM_001300785.2:c.2327A>G NP_001287714.2:p.Lys776Arg
NM_001386140.1:c.2576A>G MANE Select NP_001373069.1:p.Lys859Arg