Canonical Allele Identifier: CA440328203

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99574933T>C , CM000666.2:g.99574933T>C	GRCh38
NC_000004.11:g.100496090T>C , CM000666.1:g.100496090T>C	GRCh37
NC_000004.10:g.100715113T>C	NCBI36
NG_011469.1:g.15851T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001386140.1:c.24T>C MANE Select	NP_001373069.1:p.Phe8=
ENST00000265517.10:c.24T>C MANE Select	ENSP00000265517.5:p.Phe8=
NM_000253.3:c.24T>C	NP_000244.2:p.Phe8=
NM_000253.4:c.24T>C	NP_000244.2:p.Phe8=
NM_001300785.1:c.143-6972T>C	NP_001287714.1:n.143-6972T>C
NM_001300785.2:c.-188-6972T>C	NP_001287714.2:n.-188-6972T>C
ENST00000265517.9:c.24T>C	ENSP00000265517.5:p.Phe8=
ENST00000422897.6:c.24T>C	ENSP00000407350.2:p.Phe8=
ENST00000457717.5:c.24T>C	ENSP00000400821.1:p.Phe8=
ENST00000457717.6:c.24T>C	ENSP00000400821.1:p.Phe8=
ENST00000505094.5:c.*151+4068T>C	ENSP00000422782.1:n.*151+4068T>C
ENST00000505094.6:c.-189+4068T>C	ENSP00000422782.2:n.-189+4068T>C
ENST00000505142.5:c.*214T>C	ENSP00000425987.1:n.*214T>C
ENST00000506883.5:c.92-6972T>C	ENSP00000426755.1:n.92-6972T>C
ENST00000511045.5:c.143-6972T>C	ENSP00000427679.1:n.143-6972T>C
ENST00000511045.6:c.-188-6972T>C	ENSP00000427679.2:n.-188-6972T>C
ENST00000511610.5:c.*214T>C	ENSP00000422178.1:n.*214T>C
ENST00000511610.6:c.24T>C	ENSP00000422178.2:p.Phe8=
ENST00000513404.5:c.*87T>C	ENSP00000424972.1:n.*87T>C
ENST00000515141.5:c.*87T>C	ENSP00000425642.1:n.*87T>C
ENST00000619629.1:c.24T>C	ENSP00000482850.1:p.Phe8=