Canonical Allele Identifier: CA357520131

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100543838T>C (hg19) ; chr4:g.99622681T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622681T>C , CM000666.2:g.99622681T>C	GRCh38
NC_000004.11:g.100543838T>C , CM000666.1:g.100543838T>C	GRCh37
NC_000004.10:g.100762861T>C	NCBI36
NG_011469.1:g.63599T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2518T>C MANE Select	ENSP00000265517.5:p.Phe840Leu
ENST00000457717.6:c.2518T>C	ENSP00000400821.1:p.Phe840Leu
ENST00000511045.6:c.2269T>C	ENSP00000427679.2:p.Phe757Leu
ENST00000265517.9:c.2518T>C	ENSP00000265517.5:p.Phe840Leu
ENST00000457717.5:c.2518T>C	ENSP00000400821.1:p.Phe840Leu
ENST00000511045.5:c.2599T>C	ENSP00000427679.1:p.Phe867Leu
ENST00000619629.1:c.*965T>C	ENSP00000482850.1:n.*965T>C
NM_000253.3:c.2518T>C	NP_000244.2:p.Phe840Leu
NM_001300785.1:c.2599T>C	NP_001287714.1:p.Phe867Leu
NM_000253.4:c.2518T>C	NP_000244.2:p.Phe840Leu
NM_001300785.2:c.2269T>C	NP_001287714.2:p.Phe757Leu
NM_001386140.1:c.2518T>C MANE Select	NP_001373069.1:p.Phe840Leu