Canonical Allele Identifier: CA440328614

Gene: MTTP

Linked Data

• ClinVar Variation Id: 2793242
• ClinVar RCV Id: RCV003670136
• dbSNP Id: rs1472302192
• gnomAD v2: 4-100504599-C-T
• gnomAD v3: 4-99583442-C-T
• gnomAD v4: 4-99583442-C-T
• MyVariant Identifiers: chr4:g.100504599C>T (hg19) ; chr4:g.99583442C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583442C>T , CM000666.2:g.99583442C>T	GRCh38
NC_000004.11:g.100504599C>T , CM000666.1:g.100504599C>T	GRCh37
NC_000004.10:g.100723622C>T	NCBI36
NG_011469.1:g.24360C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.318C>T MANE Select	ENSP00000265517.5:p.Ser106=
ENST00000457717.6:c.318C>T	ENSP00000400821.1:p.Ser106=
ENST00000511045.6:c.69C>T	ENSP00000427679.2:p.Ser23=
ENST00000265517.9:c.318C>T	ENSP00000265517.5:p.Ser106=
ENST00000422897.6:c.318C>T	ENSP00000407350.2:p.Ser106=
ENST00000457717.5:c.318C>T	ENSP00000400821.1:p.Ser106=
ENST00000506883.5:c.348C>T	ENSP00000426755.1:p.Ser116=
ENST00000511045.5:c.399C>T	ENSP00000427679.1:p.Ser133=
ENST00000515141.5:c.*381C>T	ENSP00000425642.1:n.*381C>T
ENST00000619629.1:c.318C>T	ENSP00000482850.1:p.Ser106=
NM_000253.3:c.318C>T	NP_000244.2:p.Ser106=
NM_001300785.1:c.399C>T	NP_001287714.1:p.Ser133=
NM_000253.4:c.318C>T	NP_000244.2:p.Ser106=
NM_001300785.2:c.69C>T	NP_001287714.2:p.Ser23=
NM_001386140.1:c.318C>T MANE Select	NP_001373069.1:p.Ser106=