Canonical Allele Identifier: CA357520462

Gene: MTTP

Linked Data

• ClinVar Variation Id: 1354857
• ClinVar RCV Id: RCV001887895
• dbSNP Id: rs764748157
• gnomAD v2: 4-100543926-C-T
• gnomAD v4: 4-99622769-C-T
• MyVariant Identifiers: chr4:g.100543926C>T (hg19) ; chr4:g.99622769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622769C>T , CM000666.2:g.99622769C>T	GRCh38
NC_000004.11:g.100543926C>T , CM000666.1:g.100543926C>T	GRCh37
NC_000004.10:g.100762949C>T	NCBI36
NG_011469.1:g.63687C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.2606C>T MANE Select	ENSP00000265517.5:p.Pro869Leu
ENST00000457717.6:c.2606C>T	ENSP00000400821.1:p.Pro869Leu
ENST00000511045.6:c.2357C>T	ENSP00000427679.2:p.Pro786Leu
ENST00000265517.9:c.2606C>T	ENSP00000265517.5:p.Pro869Leu
ENST00000457717.5:c.2606C>T	ENSP00000400821.1:p.Pro869Leu
ENST00000511045.5:c.2687C>T	ENSP00000427679.1:p.Pro896Leu
ENST00000619629.1:c.*1053C>T	ENSP00000482850.1:n.*1053C>T
NM_000253.3:c.2606C>T	NP_000244.2:p.Pro869Leu
NM_001300785.1:c.2687C>T	NP_001287714.1:p.Pro896Leu
NM_000253.4:c.2606C>T	NP_000244.2:p.Pro869Leu
NM_001300785.2:c.2357C>T	NP_001287714.2:p.Pro786Leu
NM_001386140.1:c.2606C>T MANE Select	NP_001373069.1:p.Pro869Leu