Canonical Allele Identifier: CA357502487

Gene: MTTP

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583516A>C , CM000666.2:g.99583516A>C	GRCh38
NC_000004.11:g.100504673A>C , CM000666.1:g.100504673A>C	GRCh37
NC_000004.10:g.100723696A>C	NCBI36
NG_011469.1:g.24434A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.392A>C MANE Select	ENSP00000265517.5:p.Lys131Thr
ENST00000457717.6:c.392A>C	ENSP00000400821.1:p.Lys131Thr
ENST00000511045.6:c.143A>C	ENSP00000427679.2:p.Lys48Thr
ENST00000265517.9:c.392A>C	ENSP00000265517.5:p.Lys131Thr
ENST00000422897.6:c.392A>C	ENSP00000407350.2:p.Lys131Thr
ENST00000457717.5:c.392A>C	ENSP00000400821.1:p.Lys131Thr
ENST00000506883.5:c.422A>C	ENSP00000426755.1:p.Lys141Thr
ENST00000511045.5:c.473A>C	ENSP00000427679.1:p.Lys158Thr
ENST00000619629.1:c.392A>C	ENSP00000482850.1:p.Lys131Thr
NM_000253.3:c.392A>C	NP_000244.2:p.Lys131Thr
NM_001300785.1:c.473A>C	NP_001287714.1:p.Lys158Thr
NM_000253.4:c.392A>C	NP_000244.2:p.Lys131Thr
NM_001300785.2:c.143A>C	NP_001287714.2:p.Lys48Thr
NM_001386140.1:c.392A>C MANE Select	NP_001373069.1:p.Lys131Thr