Canonical Allele Identifier: CA2578152536
Gene: MTTP HGNC NCBI

Linked Data

gnomAD v4: 4-99622853-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99622853G>C , CM000666.2:g.99622853G>C GRCh38
NC_000004.11:g.100544010G>C , CM000666.1:g.100544010G>C GRCh37
NC_000004.10:g.100763033G>C NCBI36
NG_011469.1:g.63771G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.*5G>C MANE Select ENSP00000265517.5:n.*5G>C
ENST00000457717.6:c.*5G>C ENSP00000400821.1:n.*5G>C
ENST00000511045.6:c.*5G>C ENSP00000427679.2:n.*5G>C
ENST00000265517.9:c.*5G>C ENSP00000265517.5:n.*5G>C
ENST00000457717.5:c.*5G>C ENSP00000400821.1:n.*5G>C
ENST00000511045.5:c.*5G>C ENSP00000427679.1:n.*5G>C
ENST00000619629.1:c.*1137G>C ENSP00000482850.1:n.*1137G>C
NM_000253.3:c.*5G>C NP_000244.2:n.*5G>C
NM_001300785.1:c.*5G>C NP_001287714.1:n.*5G>C
NM_000253.4:c.*5G>C NP_000244.2:n.*5G>C
NM_001300785.2:c.*5G>C NP_001287714.2:n.*5G>C
NM_001386140.1:c.*5G>C MANE Select NP_001373069.1:n.*5G>C