Canonical Allele Identifier: CA357502118

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100504576A>G (hg19) ; chr4:g.99583419A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583419A>G , CM000666.2:g.99583419A>G	GRCh38
NC_000004.11:g.100504576A>G , CM000666.1:g.100504576A>G	GRCh37
NC_000004.10:g.100723599A>G	NCBI36
NG_011469.1:g.24337A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.295A>G MANE Select	ENSP00000265517.5:p.Lys99Glu
ENST00000457717.6:c.295A>G	ENSP00000400821.1:p.Lys99Glu
ENST00000505094.6:c.46A>G	ENSP00000422782.2:p.Lys16Glu
ENST00000511045.6:c.46A>G	ENSP00000427679.2:p.Lys16Glu
ENST00000265517.9:c.295A>G	ENSP00000265517.5:p.Lys99Glu
ENST00000422897.6:c.295A>G	ENSP00000407350.2:p.Lys99Glu
ENST00000457717.5:c.295A>G	ENSP00000400821.1:p.Lys99Glu
ENST00000505094.5:c.*385A>G	ENSP00000422782.1:n.*385A>G
ENST00000506883.5:c.325A>G	ENSP00000426755.1:p.Lys109Glu
ENST00000511045.5:c.376A>G	ENSP00000427679.1:p.Lys126Glu
ENST00000515141.5:c.*358A>G	ENSP00000425642.1:n.*358A>G
ENST00000619629.1:c.295A>G	ENSP00000482850.1:p.Lys99Glu
NM_000253.3:c.295A>G	NP_000244.2:p.Lys99Glu
NM_001300785.1:c.376A>G	NP_001287714.1:p.Lys126Glu
NM_000253.4:c.295A>G	NP_000244.2:p.Lys99Glu
NM_001300785.2:c.46A>G	NP_001287714.2:p.Lys16Glu
NM_001386140.1:c.295A>G MANE Select	NP_001373069.1:p.Lys99Glu