Canonical Allele Identifier: CA3022414

Gene: MTTP

Linked Data

• ClinVar Variation Id: 1416980
• ClinVar RCV Id: RCV001923477
• dbSNP Id: rs757879019
• ExAC: 4:100543931 C / T
• gnomAD v2: 4-100543931-C-T
• gnomAD v4: 4-99622774-C-T
• MyVariant Identifiers: chr4:g.100543931C>T (hg19) ; chr4:g.99622774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622774C>T , CM000666.2:g.99622774C>T	GRCh38
NC_000004.11:g.100543931C>T , CM000666.1:g.100543931C>T	GRCh37
NC_000004.10:g.100762954C>T	NCBI36
NG_011469.1:g.63692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2611C>T MANE Select	ENSP00000265517.5:p.His871Tyr
ENST00000457717.6:c.2611C>T	ENSP00000400821.1:p.His871Tyr
ENST00000511045.6:c.2362C>T	ENSP00000427679.2:p.His788Tyr
ENST00000265517.9:c.2611C>T	ENSP00000265517.5:p.His871Tyr
ENST00000457717.5:c.2611C>T	ENSP00000400821.1:p.His871Tyr
ENST00000511045.5:c.2692C>T	ENSP00000427679.1:p.His898Tyr
ENST00000619629.1:c.*1058C>T	ENSP00000482850.1:n.*1058C>T
NM_000253.3:c.2611C>T	NP_000244.2:p.His871Tyr
NM_001300785.1:c.2692C>T	NP_001287714.1:p.His898Tyr
NM_000253.4:c.2611C>T	NP_000244.2:p.His871Tyr
NM_001300785.2:c.2362C>T	NP_001287714.2:p.His788Tyr
NM_001386140.1:c.2611C>T MANE Select	NP_001373069.1:p.His871Tyr