Canonical Allele Identifier: CA357520925

Gene: MTTP

Linked Data

• ClinVar Variation Id: 2004990
• ClinVar RCV Id: RCV002820693
• MyVariant Identifiers: chr4:g.100544005A>C (hg19) ; chr4:g.99622848A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622848A>C , CM000666.2:g.99622848A>C	GRCh38
NC_000004.11:g.100544005A>C , CM000666.1:g.100544005A>C	GRCh37
NC_000004.10:g.100763028A>C	NCBI36
NG_011469.1:g.63766A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2685A>C MANE Select	ENSP00000265517.5:p.Ter895Cys
ENST00000457717.6:c.2685A>C	ENSP00000400821.1:p.Ter895Cys
ENST00000511045.6:c.2436A>C	ENSP00000427679.2:p.Ter812Cys
ENST00000265517.9:c.2685A>C	ENSP00000265517.5:p.Ter895Cys
ENST00000457717.5:c.2685A>C	ENSP00000400821.1:p.Ter895Cys
ENST00000511045.5:c.2766A>C	ENSP00000427679.1:p.Ter922Cys
ENST00000619629.1:c.*1132A>C	ENSP00000482850.1:n.*1132A>C
NM_000253.3:c.2685A>C	NP_000244.2:p.Ter895Cys
NM_001300785.1:c.2766A>C	NP_001287714.1:p.Ter922Cys
NM_000253.4:c.2685A>C	NP_000244.2:p.Ter895Cys
NM_001300785.2:c.2436A>C	NP_001287714.2:p.Ter812Cys
NM_001386140.1:c.2685A>C MANE Select	NP_001373069.1:p.Ter895Cys