Canonical Allele Identifier: CA357502289

Gene: MTTP

Linked Data

• ClinVar Variation Id: 1019999
• ClinVar RCV Id: RCV001319515 ; RCV001835598
• dbSNP Id: rs1283368181
• gnomAD v3: 4-99583456-T-C
• gnomAD v4: 4-99583456-T-C
• MyVariant Identifiers: chr4:g.100504613T>C (hg19) ; chr4:g.99583456T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583456T>C , CM000666.2:g.99583456T>C	GRCh38
NC_000004.11:g.100504613T>C , CM000666.1:g.100504613T>C	GRCh37
NC_000004.10:g.100723636T>C	NCBI36
NG_011469.1:g.24374T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.332T>C MANE Select	ENSP00000265517.5:p.Met111Thr
ENST00000457717.6:c.332T>C	ENSP00000400821.1:p.Met111Thr
ENST00000511045.6:c.83T>C	ENSP00000427679.2:p.Met28Thr
ENST00000265517.9:c.332T>C	ENSP00000265517.5:p.Met111Thr
ENST00000422897.6:c.332T>C	ENSP00000407350.2:p.Met111Thr
ENST00000457717.5:c.332T>C	ENSP00000400821.1:p.Met111Thr
ENST00000506883.5:c.362T>C	ENSP00000426755.1:p.Met121Thr
ENST00000511045.5:c.413T>C	ENSP00000427679.1:p.Met138Thr
ENST00000515141.5:c.*395T>C	ENSP00000425642.1:n.*395T>C
ENST00000619629.1:c.332T>C	ENSP00000482850.1:p.Met111Thr
NM_000253.3:c.332T>C	NP_000244.2:p.Met111Thr
NM_001300785.1:c.413T>C	NP_001287714.1:p.Met138Thr
NM_000253.4:c.332T>C	NP_000244.2:p.Met111Thr
NM_001300785.2:c.83T>C	NP_001287714.2:p.Met28Thr
NM_001386140.1:c.332T>C MANE Select	NP_001373069.1:p.Met111Thr