Canonical Allele Identifier: CA357502129

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100504577A>G (hg19) ; chr4:g.99583420A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583420A>G , CM000666.2:g.99583420A>G	GRCh38
NC_000004.11:g.100504577A>G , CM000666.1:g.100504577A>G	GRCh37
NC_000004.10:g.100723600A>G	NCBI36
NG_011469.1:g.24338A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.296A>G MANE Select	ENSP00000265517.5:p.Lys99Arg
ENST00000457717.6:c.296A>G	ENSP00000400821.1:p.Lys99Arg
ENST00000505094.6:c.47A>G	ENSP00000422782.2:p.Lys16Arg
ENST00000511045.6:c.47A>G	ENSP00000427679.2:p.Lys16Arg
ENST00000265517.9:c.296A>G	ENSP00000265517.5:p.Lys99Arg
ENST00000422897.6:c.296A>G	ENSP00000407350.2:p.Lys99Arg
ENST00000457717.5:c.296A>G	ENSP00000400821.1:p.Lys99Arg
ENST00000505094.5:c.*386A>G	ENSP00000422782.1:n.*386A>G
ENST00000506883.5:c.326A>G	ENSP00000426755.1:p.Lys109Arg
ENST00000511045.5:c.377A>G	ENSP00000427679.1:p.Lys126Arg
ENST00000515141.5:c.*359A>G	ENSP00000425642.1:n.*359A>G
ENST00000619629.1:c.296A>G	ENSP00000482850.1:p.Lys99Arg
NM_000253.3:c.296A>G	NP_000244.2:p.Lys99Arg
NM_001300785.1:c.377A>G	NP_001287714.1:p.Lys126Arg
NM_000253.4:c.296A>G	NP_000244.2:p.Lys99Arg
NM_001300785.2:c.47A>G	NP_001287714.2:p.Lys16Arg
NM_001386140.1:c.296A>G MANE Select	NP_001373069.1:p.Lys99Arg