Canonical Allele Identifier: CA357502064

Gene: MTTP

Linked Data

• dbSNP Id: rs1287059013
• gnomAD v2: 4-100504562-A-G
• gnomAD v4: 4-99583405-A-G
• MyVariant Identifiers: chr4:g.100504562A>G (hg19) ; chr4:g.99583405A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583405A>G , CM000666.2:g.99583405A>G	GRCh38
NC_000004.11:g.100504562A>G , CM000666.1:g.100504562A>G	GRCh37
NC_000004.10:g.100723585A>G	NCBI36
NG_011469.1:g.24323A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.281A>G MANE Select	ENSP00000265517.5:p.Gln94Arg
ENST00000457717.6:c.281A>G	ENSP00000400821.1:p.Gln94Arg
ENST00000505094.6:c.32A>G	ENSP00000422782.2:p.Gln11Arg
ENST00000511045.6:c.32A>G	ENSP00000427679.2:p.Gln11Arg
ENST00000265517.9:c.281A>G	ENSP00000265517.5:p.Gln94Arg
ENST00000422897.6:c.281A>G	ENSP00000407350.2:p.Gln94Arg
ENST00000457717.5:c.281A>G	ENSP00000400821.1:p.Gln94Arg
ENST00000505094.5:c.*371A>G	ENSP00000422782.1:n.*371A>G
ENST00000506883.5:c.311A>G	ENSP00000426755.1:p.Gln104Arg
ENST00000511045.5:c.362A>G	ENSP00000427679.1:p.Gln121Arg
ENST00000513404.5:c.*344A>G	ENSP00000424972.1:n.*344A>G
ENST00000515141.5:c.*344A>G	ENSP00000425642.1:n.*344A>G
ENST00000619629.1:c.281A>G	ENSP00000482850.1:p.Gln94Arg
NM_000253.3:c.281A>G	NP_000244.2:p.Gln94Arg
NM_001300785.1:c.362A>G	NP_001287714.1:p.Gln121Arg
NM_000253.4:c.281A>G	NP_000244.2:p.Gln94Arg
NM_001300785.2:c.32A>G	NP_001287714.2:p.Gln11Arg
NM_001386140.1:c.281A>G MANE Select	NP_001373069.1:p.Gln94Arg