Canonical Allele Identifier: CA357502070

Gene: MTTP

Linked Data

• ClinVar Variation Id: 2103356
• ClinVar RCV Id: RCV003022109
• MyVariant Identifiers: chr4:g.100504564C>T (hg19) ; chr4:g.99583407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583407C>T , CM000666.2:g.99583407C>T	GRCh38
NC_000004.11:g.100504564C>T , CM000666.1:g.100504564C>T	GRCh37
NC_000004.10:g.100723587C>T	NCBI36
NG_011469.1:g.24325C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.283C>T MANE Select	ENSP00000265517.5:p.Gln95Ter
ENST00000457717.6:c.283C>T	ENSP00000400821.1:p.Gln95Ter
ENST00000505094.6:c.34C>T	ENSP00000422782.2:p.Gln12Ter
ENST00000511045.6:c.34C>T	ENSP00000427679.2:p.Gln12Ter
ENST00000265517.9:c.283C>T	ENSP00000265517.5:p.Gln95Ter
ENST00000422897.6:c.283C>T	ENSP00000407350.2:p.Gln95Ter
ENST00000457717.5:c.283C>T	ENSP00000400821.1:p.Gln95Ter
ENST00000505094.5:c.*373C>T	ENSP00000422782.1:n.*373C>T
ENST00000506883.5:c.313C>T	ENSP00000426755.1:p.Gln105Ter
ENST00000511045.5:c.364C>T	ENSP00000427679.1:p.Gln122Ter
ENST00000513404.5:c.*346C>T	ENSP00000424972.1:n.*346C>T
ENST00000515141.5:c.*346C>T	ENSP00000425642.1:n.*346C>T
ENST00000619629.1:c.283C>T	ENSP00000482850.1:p.Gln95Ter
NM_000253.3:c.283C>T	NP_000244.2:p.Gln95Ter
NM_001300785.1:c.364C>T	NP_001287714.1:p.Gln122Ter
NM_000253.4:c.283C>T	NP_000244.2:p.Gln95Ter
NM_001300785.2:c.34C>T	NP_001287714.2:p.Gln12Ter
NM_001386140.1:c.283C>T MANE Select	NP_001373069.1:p.Gln95Ter