Canonical Allele Identifier: CA3022145

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99608826C>T , CM000666.2:g.99608826C>T	GRCh38
NC_000004.11:g.100529983C>T , CM000666.1:g.100529983C>T	GRCh37
NC_000004.10:g.100749006C>T	NCBI36
NG_011469.1:g.49744C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001386140.1:c.1618C>T MANE Select	NP_001373069.1:p.Arg540Cys
ENST00000265517.10:c.1618C>T MANE Select	ENSP00000265517.5:p.Arg540Cys
NM_000253.3:c.1618C>T	NP_000244.2:p.Arg540Cys
NM_000253.4:c.1618C>T	NP_000244.2:p.Arg540Cys
NM_001300785.1:c.1699C>T	NP_001287714.1:p.Arg567Cys
NM_001300785.2:c.1369C>T	NP_001287714.2:p.Arg457Cys
ENST00000265517.9:c.1618C>T	ENSP00000265517.5:p.Arg540Cys
ENST00000457717.5:c.1618C>T	ENSP00000400821.1:p.Arg540Cys
ENST00000457717.6:c.1618C>T	ENSP00000400821.1:p.Arg540Cys
ENST00000511045.5:c.1699C>T	ENSP00000427679.1:p.Arg567Cys
ENST00000511045.6:c.1369C>T	ENSP00000427679.2:p.Arg457Cys
ENST00000619629.1:c.*65C>T	ENSP00000482850.1:n.*65C>T