Canonical Allele Identifier: CA2671535122

Gene: MTTP

Linked Data

• gnomAD v4: 4-99618838-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99618838C>A , CM000666.2:g.99618838C>A	GRCh38
NC_000004.11:g.100539995C>A , CM000666.1:g.100539995C>A	GRCh37
NC_000004.10:g.100759018C>A	NCBI36
NG_011469.1:g.59756C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2218-136C>A MANE Select	ENSP00000265517.5:n.2218-136C>A
ENST00000457717.6:c.2218-136C>A	ENSP00000400821.1:n.2218-136C>A
ENST00000511045.6:c.1969-136C>A	ENSP00000427679.2:n.1969-136C>A
ENST00000265517.9:c.2218-136C>A	ENSP00000265517.5:n.2218-136C>A
ENST00000457717.5:c.2218-136C>A	ENSP00000400821.1:n.2218-136C>A
ENST00000511045.5:c.2299-136C>A	ENSP00000427679.1:n.2299-136C>A
ENST00000619629.1:c.*665-136C>A	ENSP00000482850.1:n.*665-136C>A
NM_000253.3:c.2218-136C>A	NP_000244.2:n.2218-136C>A
NM_001300785.1:c.2299-136C>A	NP_001287714.1:n.2299-136C>A
NM_000253.4:c.2218-136C>A	NP_000244.2:n.2218-136C>A
NM_001300785.2:c.1969-136C>A	NP_001287714.2:n.1969-136C>A
NM_001386140.1:c.2218-136C>A MANE Select	NP_001373069.1:n.2218-136C>A