Canonical Allele Identifier: CA440329182

Gene: MTTP

Linked Data

• ClinVar Variation Id: 2813969
• ClinVar RCV Id: RCV003680712
• MyVariant Identifiers: chr4:g.100515923C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99594766C>T , CM000666.2:g.99594766C>T	GRCh38
NC_000004.11:g.100515923C>T , CM000666.1:g.100515923C>T	GRCh37
NC_000004.10:g.100734946C>T	NCBI36
NG_011469.1:g.35684C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.792C>T MANE Select	ENSP00000265517.5:p.Gly264=
ENST00000457717.6:c.792C>T	ENSP00000400821.1:p.Gly264=
ENST00000511045.6:c.543C>T	ENSP00000427679.2:p.Gly181=
ENST00000265517.9:c.792C>T	ENSP00000265517.5:p.Gly264=
ENST00000457717.5:c.792C>T	ENSP00000400821.1:p.Gly264=
ENST00000511045.5:c.873C>T	ENSP00000427679.1:p.Gly291=
ENST00000619629.1:c.792C>T	ENSP00000482850.1:p.Gly264=
NM_000253.3:c.792C>T	NP_000244.2:p.Gly264=
NM_001300785.1:c.873C>T	NP_001287714.1:p.Gly291=
NM_000253.4:c.792C>T	NP_000244.2:p.Gly264=
NM_001300785.2:c.543C>T	NP_001287714.2:p.Gly181=
NM_001386140.1:c.792C>T MANE Select	NP_001373069.1:p.Gly264=