Canonical Allele Identifier: CA357502362

Gene: MTTP

Linked Data

• dbSNP Id: rs2110212722
• MyVariant Identifiers: chr4:g.100504629G>T (hg19) ; chr4:g.99583472G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583472G>T , CM000666.2:g.99583472G>T	GRCh38
NC_000004.11:g.100504629G>T , CM000666.1:g.100504629G>T	GRCh37
NC_000004.10:g.100723652G>T	NCBI36
NG_011469.1:g.24390G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.348G>T MANE Select	ENSP00000265517.5:p.Leu116Phe
ENST00000457717.6:c.348G>T	ENSP00000400821.1:p.Leu116Phe
ENST00000511045.6:c.99G>T	ENSP00000427679.2:p.Leu33Phe
ENST00000265517.9:c.348G>T	ENSP00000265517.5:p.Leu116Phe
ENST00000422897.6:c.348G>T	ENSP00000407350.2:p.Leu116Phe
ENST00000457717.5:c.348G>T	ENSP00000400821.1:p.Leu116Phe
ENST00000506883.5:c.378G>T	ENSP00000426755.1:p.Leu126Phe
ENST00000511045.5:c.429G>T	ENSP00000427679.1:p.Leu143Phe
ENST00000515141.5:c.*411G>T	ENSP00000425642.1:n.*411G>T
ENST00000619629.1:c.348G>T	ENSP00000482850.1:p.Leu116Phe
NM_000253.3:c.348G>T	NP_000244.2:p.Leu116Phe
NM_001300785.1:c.429G>T	NP_001287714.1:p.Leu143Phe
NM_000253.4:c.348G>T	NP_000244.2:p.Leu116Phe
NM_001300785.2:c.99G>T	NP_001287714.2:p.Leu33Phe
NM_001386140.1:c.348G>T MANE Select	NP_001373069.1:p.Leu116Phe