Canonical Allele Identifier: CA153733

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99597126T>C , CM000666.2:g.99597126T>C	GRCh38
NC_000004.11:g.100518283T>C , CM000666.1:g.100518283T>C	GRCh37
NC_000004.10:g.100737306T>C	NCBI36
NG_011469.1:g.38044T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001386140.1:c.969T>C MANE Select	NP_001373069.1:p.Ala323=
ENST00000265517.10:c.969T>C MANE Select	ENSP00000265517.5:p.Ala323=
NM_000253.3:c.969T>C	NP_000244.2:p.Ala323=
NM_000253.4:c.969T>C	NP_000244.2:p.Ala323=
NM_001300785.1:c.1050T>C	NP_001287714.1:p.Ala350=
NM_001300785.2:c.720T>C	NP_001287714.2:p.Ala240=
ENST00000265517.9:c.969T>C	ENSP00000265517.5:p.Ala323=
ENST00000457717.5:c.969T>C	ENSP00000400821.1:p.Ala323=
ENST00000457717.6:c.969T>C	ENSP00000400821.1:p.Ala323=
ENST00000511045.5:c.1050T>C	ENSP00000427679.1:p.Ala350=
ENST00000511045.6:c.720T>C	ENSP00000427679.2:p.Ala240=
ENST00000619629.1:c.969T>C	ENSP00000482850.1:p.Ala323=