Canonical Allele Identifier: CA357518531

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99619085C>T , CM000666.2:g.99619085C>T	GRCh38
NC_000004.11:g.100540242C>T , CM000666.1:g.100540242C>T	GRCh37
NC_000004.10:g.100759265C>T	NCBI36
NG_011469.1:g.60003C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001386140.1:c.2329C>T MANE Select	NP_001373069.1:p.Arg777Ter
ENST00000265517.10:c.2329C>T MANE Select	ENSP00000265517.5:p.Arg777Ter
NM_000253.3:c.2329C>T	NP_000244.2:p.Arg777Ter
NM_000253.4:c.2329C>T	NP_000244.2:p.Arg777Ter
NM_001300785.1:c.2410C>T	NP_001287714.1:p.Arg804Ter
NM_001300785.2:c.2080C>T	NP_001287714.2:p.Arg694Ter
ENST00000265517.9:c.2329C>T	ENSP00000265517.5:p.Arg777Ter
ENST00000457717.5:c.2329C>T	ENSP00000400821.1:p.Arg777Ter
ENST00000457717.6:c.2329C>T	ENSP00000400821.1:p.Arg777Ter
ENST00000511045.5:c.2410C>T	ENSP00000427679.1:p.Arg804Ter
ENST00000511045.6:c.2080C>T	ENSP00000427679.2:p.Arg694Ter
ENST00000619629.1:c.*776C>T	ENSP00000482850.1:n.*776C>T