Canonical Allele Identifier: CA357502187

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100504589A>C (hg19) ; chr4:g.99583432A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583432A>C , CM000666.2:g.99583432A>C	GRCh38
NC_000004.11:g.100504589A>C , CM000666.1:g.100504589A>C	GRCh37
NC_000004.10:g.100723612A>C	NCBI36
NG_011469.1:g.24350A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.308A>C MANE Select	ENSP00000265517.5:p.Lys103Thr
ENST00000457717.6:c.308A>C	ENSP00000400821.1:p.Lys103Thr
ENST00000511045.6:c.59A>C	ENSP00000427679.2:p.Lys20Thr
ENST00000265517.9:c.308A>C	ENSP00000265517.5:p.Lys103Thr
ENST00000422897.6:c.308A>C	ENSP00000407350.2:p.Lys103Thr
ENST00000457717.5:c.308A>C	ENSP00000400821.1:p.Lys103Thr
ENST00000506883.5:c.338A>C	ENSP00000426755.1:p.Lys113Thr
ENST00000511045.5:c.389A>C	ENSP00000427679.1:p.Lys130Thr
ENST00000515141.5:c.*371A>C	ENSP00000425642.1:n.*371A>C
ENST00000619629.1:c.308A>C	ENSP00000482850.1:p.Lys103Thr
NM_000253.3:c.308A>C	NP_000244.2:p.Lys103Thr
NM_001300785.1:c.389A>C	NP_001287714.1:p.Lys130Thr
NM_000253.4:c.308A>C	NP_000244.2:p.Lys103Thr
NM_001300785.2:c.59A>C	NP_001287714.2:p.Lys20Thr
NM_001386140.1:c.308A>C MANE Select	NP_001373069.1:p.Lys103Thr