Canonical Allele Identifier: CA11785816
Gene: MTTP HGNC NCBI
COSMIC:
COSN24709323 (not active)
MyVariant.info:
GRCh38 chr4:g.99618739T>C
GRCh37 chr4:g.100539896T>C
gnomAD v2:
4:100539896 T / C
gnomAD v3:
4:99618739 T / C
gnomAD v4:
chr4-99618739-T-C
Joint Max Group AF 0.4325211 (AFR)
Genomes Max Group AF 0.4325211 (AFR)
ClinVar RCV:
RCV001672168
ClinVar Variation:
1263351
dbSNP:
1032355
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99618739T>C , CM000666.2:g.99618739T>C GRCh38
NC_000004.11:g.100539896T>C , CM000666.1:g.100539896T>C GRCh37
NC_000004.10:g.100758919T>C NCBI36
NG_011469.1:g.59657T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.2218-235T>C MANE Select ENSP00000265517.5:n.2218-235T>C
ENST00000457717.6:c.2218-235T>C ENSP00000400821.1:n.2218-235T>C
ENST00000511045.6:c.1969-235T>C ENSP00000427679.2:n.1969-235T>C
ENST00000265517.9:c.2218-235T>C ENSP00000265517.5:n.2218-235T>C
ENST00000457717.5:c.2218-235T>C ENSP00000400821.1:n.2218-235T>C
ENST00000511045.5:c.2299-235T>C ENSP00000427679.1:n.2299-235T>C
ENST00000619629.1:c.*665-235T>C ENSP00000482850.1:n.*665-235T>C
NM_000253.3:c.2218-235T>C NP_000244.2:n.2218-235T>C
NM_001300785.1:c.2299-235T>C NP_001287714.1:n.2299-235T>C
NM_000253.4:c.2218-235T>C NP_000244.2:n.2218-235T>C
NM_001300785.2:c.1969-235T>C NP_001287714.2:n.1969-235T>C
NM_001386140.1:c.2218-235T>C MANE Select NP_001373069.1:n.2218-235T>C
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