Canonical Allele Identifier: CA3022434

Gene: MTTP

Linked Data

• dbSNP Id: rs762537539
• ExAC: 4:100544024 T / G
• gnomAD v2: 4-100544024-T-G
• gnomAD v4: 4-99622867-T-G
• MyVariant Identifiers: chr4:g.100544024T>G (hg19) ; chr4:g.99622867T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622867T>G , CM000666.2:g.99622867T>G	GRCh38
NC_000004.11:g.100544024T>G , CM000666.1:g.100544024T>G	GRCh37
NC_000004.10:g.100763047T>G	NCBI36
NG_011469.1:g.63785T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.*19T>G MANE Select	ENSP00000265517.5:n.*19T>G
ENST00000457717.6:c.*19T>G	ENSP00000400821.1:n.*19T>G
ENST00000511045.6:c.*19T>G	ENSP00000427679.2:n.*19T>G
ENST00000265517.9:c.*19T>G	ENSP00000265517.5:n.*19T>G
ENST00000457717.5:c.*19T>G	ENSP00000400821.1:n.*19T>G
ENST00000511045.5:c.*19T>G	ENSP00000427679.1:n.*19T>G
ENST00000619629.1:c.*1151T>G	ENSP00000482850.1:n.*1151T>G
NM_000253.3:c.*19T>G	NP_000244.2:n.*19T>G
NM_001300785.1:c.*19T>G	NP_001287714.1:n.*19T>G
NM_000253.4:c.*19T>G	NP_000244.2:n.*19T>G
NM_001300785.2:c.*19T>G	NP_001287714.2:n.*19T>G
NM_001386140.1:c.*19T>G MANE Select	NP_001373069.1:n.*19T>G