Canonical Allele Identifier: CA357501928

Gene: MTTP

Linked Data

• dbSNP Id: rs994697147
• gnomAD v4: 4-99583375-T-A
• MyVariant Identifiers: chr4:g.100504532T>A (hg19) ; chr4:g.99583375T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583375T>A , CM000666.2:g.99583375T>A	GRCh38
NC_000004.11:g.100504532T>A , CM000666.1:g.100504532T>A	GRCh37
NC_000004.10:g.100723555T>A	NCBI36
NG_011469.1:g.24293T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.251T>A MANE Select	ENSP00000265517.5:p.Met84Lys
ENST00000457717.6:c.251T>A	ENSP00000400821.1:p.Met84Lys
ENST00000505094.6:c.2T>A	ENSP00000422782.2:p.Met1Lys
ENST00000511045.6:c.2T>A	ENSP00000427679.2:p.Met1Lys
ENST00000265517.9:c.251T>A	ENSP00000265517.5:p.Met84Lys
ENST00000422897.6:c.251T>A	ENSP00000407350.2:p.Met84Lys
ENST00000457717.5:c.251T>A	ENSP00000400821.1:p.Met84Lys
ENST00000505094.5:c.*341T>A	ENSP00000422782.1:n.*341T>A
ENST00000506883.5:c.281T>A	ENSP00000426755.1:p.Met94Lys
ENST00000511045.5:c.332T>A	ENSP00000427679.1:p.Met111Lys
ENST00000513404.5:c.*314T>A	ENSP00000424972.1:n.*314T>A
ENST00000515141.5:c.*314T>A	ENSP00000425642.1:n.*314T>A
ENST00000619629.1:c.251T>A	ENSP00000482850.1:p.Met84Lys
NM_000253.3:c.251T>A	NP_000244.2:p.Met84Lys
NM_001300785.1:c.332T>A	NP_001287714.1:p.Met111Lys
NM_000253.4:c.251T>A	NP_000244.2:p.Met84Lys
NM_001300785.2:c.2T>A	NP_001287714.2:p.Met1Lys
NM_001386140.1:c.251T>A MANE Select	NP_001373069.1:p.Met84Lys