Canonical Allele Identifier: CA3021805

Gene: MTTP

Linked Data

• ClinVar Variation Id: 2057729
• ClinVar RCV Id: RCV002928216
• dbSNP Id: rs767701656
• ExAC: 4:100504627 T / C
• gnomAD v2: 4-100504627-T-C
• gnomAD v4: 4-99583470-T-C
• MyVariant Identifiers: chr4:g.100504627T>C (hg19) ; chr4:g.99583470T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583470T>C , CM000666.2:g.99583470T>C	GRCh38
NC_000004.11:g.100504627T>C , CM000666.1:g.100504627T>C	GRCh37
NC_000004.10:g.100723650T>C	NCBI36
NG_011469.1:g.24388T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.346T>C MANE Select	ENSP00000265517.5:p.Leu116=
ENST00000457717.6:c.346T>C	ENSP00000400821.1:p.Leu116=
ENST00000511045.6:c.97T>C	ENSP00000427679.2:p.Leu33=
ENST00000265517.9:c.346T>C	ENSP00000265517.5:p.Leu116=
ENST00000422897.6:c.346T>C	ENSP00000407350.2:p.Leu116=
ENST00000457717.5:c.346T>C	ENSP00000400821.1:p.Leu116=
ENST00000506883.5:c.376T>C	ENSP00000426755.1:p.Leu126=
ENST00000511045.5:c.427T>C	ENSP00000427679.1:p.Leu143=
ENST00000515141.5:c.*409T>C	ENSP00000425642.1:n.*409T>C
ENST00000619629.1:c.346T>C	ENSP00000482850.1:p.Leu116=
NM_000253.3:c.346T>C	NP_000244.2:p.Leu116=
NM_001300785.1:c.427T>C	NP_001287714.1:p.Leu143=
NM_000253.4:c.346T>C	NP_000244.2:p.Leu116=
NM_001300785.2:c.97T>C	NP_001287714.2:p.Leu33=
NM_001386140.1:c.346T>C MANE Select	NP_001373069.1:p.Leu116=