Canonical Allele Identifier: CA357502153

Gene: MTTP

Linked Data

• dbSNP Id: rs2110212683
• gnomAD v3: 4-99583425-A-G
• gnomAD v4: 4-99583425-A-G
• MyVariant Identifiers: chr4:g.100504582A>G (hg19) ; chr4:g.99583425A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583425A>G , CM000666.2:g.99583425A>G	GRCh38
NC_000004.11:g.100504582A>G , CM000666.1:g.100504582A>G	GRCh37
NC_000004.10:g.100723605A>G	NCBI36
NG_011469.1:g.24343A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.301A>G MANE Select	ENSP00000265517.5:p.Ile101Val
ENST00000457717.6:c.301A>G	ENSP00000400821.1:p.Ile101Val
ENST00000511045.6:c.52A>G	ENSP00000427679.2:p.Ile18Val
ENST00000265517.9:c.301A>G	ENSP00000265517.5:p.Ile101Val
ENST00000422897.6:c.301A>G	ENSP00000407350.2:p.Ile101Val
ENST00000457717.5:c.301A>G	ENSP00000400821.1:p.Ile101Val
ENST00000506883.5:c.331A>G	ENSP00000426755.1:p.Ile111Val
ENST00000511045.5:c.382A>G	ENSP00000427679.1:p.Ile128Val
ENST00000515141.5:c.*364A>G	ENSP00000425642.1:n.*364A>G
ENST00000619629.1:c.301A>G	ENSP00000482850.1:p.Ile101Val
NM_000253.3:c.301A>G	NP_000244.2:p.Ile101Val
NM_001300785.1:c.382A>G	NP_001287714.1:p.Ile128Val
NM_000253.4:c.301A>G	NP_000244.2:p.Ile101Val
NM_001300785.2:c.52A>G	NP_001287714.2:p.Ile18Val
NM_001386140.1:c.301A>G MANE Select	NP_001373069.1:p.Ile101Val