Canonical Allele Identifier: CA357502329

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100504622A>C (hg19) ; chr4:g.99583465A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583465A>C , CM000666.2:g.99583465A>C	GRCh38
NC_000004.11:g.100504622A>C , CM000666.1:g.100504622A>C	GRCh37
NC_000004.10:g.100723645A>C	NCBI36
NG_011469.1:g.24383A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.341A>C MANE Select	ENSP00000265517.5:p.Glu114Ala
ENST00000457717.6:c.341A>C	ENSP00000400821.1:p.Glu114Ala
ENST00000511045.6:c.92A>C	ENSP00000427679.2:p.Glu31Ala
ENST00000265517.9:c.341A>C	ENSP00000265517.5:p.Glu114Ala
ENST00000422897.6:c.341A>C	ENSP00000407350.2:p.Glu114Ala
ENST00000457717.5:c.341A>C	ENSP00000400821.1:p.Glu114Ala
ENST00000506883.5:c.371A>C	ENSP00000426755.1:p.Glu124Ala
ENST00000511045.5:c.422A>C	ENSP00000427679.1:p.Glu141Ala
ENST00000515141.5:c.*404A>C	ENSP00000425642.1:n.*404A>C
ENST00000619629.1:c.341A>C	ENSP00000482850.1:p.Glu114Ala
NM_000253.3:c.341A>C	NP_000244.2:p.Glu114Ala
NM_001300785.1:c.422A>C	NP_001287714.1:p.Glu141Ala
NM_000253.4:c.341A>C	NP_000244.2:p.Glu114Ala
NM_001300785.2:c.92A>C	NP_001287714.2:p.Glu31Ala
NM_001386140.1:c.341A>C MANE Select	NP_001373069.1:p.Glu114Ala