Canonical Allele Identifier: CA3022422
Gene: MTTP HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.99622820C>T
GRCh37 chr4:g.100543977C>T
Revel Score:
ENST00000511045 0.082
ENST00000457717 0.082
ENST00000265517 (MANE Select) 0.082
gnomAD v2:
4:100543977 C / T
gnomAD v3:
4:99622820 C / T
gnomAD v4:
chr4-99622820-C-T
Joint Max Group AF 0.00205212 (MID)
Genomes Max Group AF 0.00032947 (NFE)
Exomes Max Group AF 0.0018771 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99622820C>T , CM000666.2:g.99622820C>T GRCh38
NC_000004.11:g.100543977C>T , CM000666.1:g.100543977C>T GRCh37
NC_000004.10:g.100763000C>T NCBI36
NG_011469.1:g.63738C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.2657C>T MANE Select ENSP00000265517.5:p.Pro886Leu
ENST00000457717.6:c.2657C>T ENSP00000400821.1:p.Pro886Leu
ENST00000511045.6:c.2408C>T ENSP00000427679.2:p.Pro803Leu
ENST00000265517.9:c.2657C>T ENSP00000265517.5:p.Pro886Leu
ENST00000457717.5:c.2657C>T ENSP00000400821.1:p.Pro886Leu
ENST00000511045.5:c.2738C>T ENSP00000427679.1:p.Pro913Leu
ENST00000619629.1:c.*1104C>T ENSP00000482850.1:n.*1104C>T
NM_000253.3:c.2657C>T NP_000244.2:p.Pro886Leu
NM_001300785.1:c.2738C>T NP_001287714.1:p.Pro913Leu
NM_000253.4:c.2657C>T NP_000244.2:p.Pro886Leu
NM_001300785.2:c.2408C>T NP_001287714.2:p.Pro803Leu
NM_001386140.1:c.2657C>T MANE Select NP_001373069.1:p.Pro886Leu
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