Canonical Allele Identifier: CA357520123

Gene: MTTP

Linked Data

• gnomAD v4: 4-99622679-A-G
• MyVariant Identifiers: chr4:g.100543836A>G (hg19) ; chr4:g.99622679A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622679A>G , CM000666.2:g.99622679A>G	GRCh38
NC_000004.11:g.100543836A>G , CM000666.1:g.100543836A>G	GRCh37
NC_000004.10:g.100762859A>G	NCBI36
NG_011469.1:g.63597A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2516A>G MANE Select	ENSP00000265517.5:p.Gln839Arg
ENST00000457717.6:c.2516A>G	ENSP00000400821.1:p.Gln839Arg
ENST00000511045.6:c.2267A>G	ENSP00000427679.2:p.Gln756Arg
ENST00000265517.9:c.2516A>G	ENSP00000265517.5:p.Gln839Arg
ENST00000457717.5:c.2516A>G	ENSP00000400821.1:p.Gln839Arg
ENST00000511045.5:c.2597A>G	ENSP00000427679.1:p.Gln866Arg
ENST00000619629.1:c.*963A>G	ENSP00000482850.1:n.*963A>G
NM_000253.3:c.2516A>G	NP_000244.2:p.Gln839Arg
NM_001300785.1:c.2597A>G	NP_001287714.1:p.Gln866Arg
NM_000253.4:c.2516A>G	NP_000244.2:p.Gln839Arg
NM_001300785.2:c.2267A>G	NP_001287714.2:p.Gln756Arg
NM_001386140.1:c.2516A>G MANE Select	NP_001373069.1:p.Gln839Arg