Canonical Allele Identifier: CA3022045

Gene: MTTP

Linked Data

• dbSNP Id: rs772144528
• ExAC: 4:100521850 T / G
• gnomAD v2: 4-100521850-T-G
• gnomAD v4: 4-99600693-T-G
• MyVariant Identifiers: chr4:g.100521850T>G (hg19) ; chr4:g.99600693T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600693T>G , CM000666.2:g.99600693T>G	GRCh38
NC_000004.11:g.100521850T>G , CM000666.1:g.100521850T>G	GRCh37
NC_000004.10:g.100740873T>G	NCBI36
NG_011469.1:g.41611T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1196T>G MANE Select	ENSP00000265517.5:p.Phe399Cys
ENST00000457717.6:c.1196T>G	ENSP00000400821.1:p.Phe399Cys
ENST00000511045.6:c.947T>G	ENSP00000427679.2:p.Phe316Cys
ENST00000265517.9:c.1196T>G	ENSP00000265517.5:p.Phe399Cys
ENST00000457717.5:c.1196T>G	ENSP00000400821.1:p.Phe399Cys
ENST00000511045.5:c.1277T>G	ENSP00000427679.1:p.Phe426Cys
ENST00000619629.1:c.1196T>G	ENSP00000482850.1:p.Phe399Cys
NM_000253.3:c.1196T>G	NP_000244.2:p.Phe399Cys
NM_001300785.1:c.1277T>G	NP_001287714.1:p.Phe426Cys
NM_000253.4:c.1196T>G	NP_000244.2:p.Phe399Cys
NM_001300785.2:c.947T>G	NP_001287714.2:p.Phe316Cys
NM_001386140.1:c.1196T>G MANE Select	NP_001373069.1:p.Phe399Cys