Canonical Allele Identifier: CA3022173

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99608989T>C , CM000666.2:g.99608989T>C	GRCh38
NC_000004.11:g.100530146T>C , CM000666.1:g.100530146T>C	GRCh37
NC_000004.10:g.100749169T>C	NCBI36
NG_011469.1:g.49907T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001386140.1:c.1769+12T>C MANE Select	NP_001373069.1:n.1769+12T>C
ENST00000265517.10:c.1769+12T>C MANE Select	ENSP00000265517.5:n.1769+12T>C
NM_000253.3:c.1769+12T>C	NP_000244.2:n.1769+12T>C
NM_000253.4:c.1769+12T>C	NP_000244.2:n.1769+12T>C
NM_001300785.1:c.1850+12T>C	NP_001287714.1:n.1850+12T>C
NM_001300785.2:c.1520+12T>C	NP_001287714.2:n.1520+12T>C
ENST00000265517.9:c.1769+12T>C	ENSP00000265517.5:n.1769+12T>C
ENST00000457717.5:c.1769+12T>C	ENSP00000400821.1:n.1769+12T>C
ENST00000457717.6:c.1769+12T>C	ENSP00000400821.1:n.1769+12T>C
ENST00000511045.5:c.1850+12T>C	ENSP00000427679.1:n.1850+12T>C
ENST00000511045.6:c.1520+12T>C	ENSP00000427679.2:n.1520+12T>C
ENST00000619629.1:c.*216+12T>C	ENSP00000482850.1:n.*216+12T>C