Canonical Allele Identifier: CA1480088040
Gene: MTTP HGNC NCBI

Linked Data

dbSNP Id: rs1726277550
gnomAD v4: 4-99622913-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99622913G>T , CM000666.2:g.99622913G>T GRCh38
NC_000004.11:g.100544070G>T , CM000666.1:g.100544070G>T GRCh37
NC_000004.10:g.100763093G>T NCBI36
NG_011469.1:g.63831G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.*65G>T MANE Select ENSP00000265517.5:n.*65G>T
ENST00000457717.6:c.*65G>T ENSP00000400821.1:n.*65G>T
ENST00000511045.6:c.*65G>T ENSP00000427679.2:n.*65G>T
ENST00000265517.9:c.*65G>T ENSP00000265517.5:n.*65G>T
ENST00000457717.5:c.*65G>T ENSP00000400821.1:n.*65G>T
ENST00000511045.5:c.*65G>T ENSP00000427679.1:n.*65G>T
ENST00000619629.1:c.*1197G>T ENSP00000482850.1:n.*1197G>T
NM_000253.3:c.*65G>T NP_000244.2:n.*65G>T
NM_001300785.1:c.*65G>T NP_001287714.1:n.*65G>T
NM_000253.4:c.*65G>T NP_000244.2:n.*65G>T
NM_001300785.2:c.*65G>T NP_001287714.2:n.*65G>T
NM_001386140.1:c.*65G>T MANE Select NP_001373069.1:n.*65G>T