Canonical Allele Identifier: CA357518594
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99619100T>A , CM000666.2:g.99619100T>A GRCh38
NC_000004.11:g.100540257T>A , CM000666.1:g.100540257T>A GRCh37
NC_000004.10:g.100759280T>A NCBI36
NG_011469.1:g.60018T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.2342+2T>A MANE Select ENSP00000265517.5:n.2342+2T>A
ENST00000457717.6:c.2342+2T>A ENSP00000400821.1:n.2342+2T>A
ENST00000511045.6:c.2093+2T>A ENSP00000427679.2:n.2093+2T>A
ENST00000265517.9:c.2342+2T>A ENSP00000265517.5:n.2342+2T>A
ENST00000457717.5:c.2342+2T>A ENSP00000400821.1:n.2342+2T>A
ENST00000511045.5:c.2423+2T>A ENSP00000427679.1:n.2423+2T>A
ENST00000619629.1:c.*789+2T>A ENSP00000482850.1:n.*789+2T>A
NM_000253.3:c.2342+2T>A NP_000244.2:n.2342+2T>A
NM_001300785.1:c.2423+2T>A NP_001287714.1:n.2423+2T>A
NM_000253.4:c.2342+2T>A NP_000244.2:n.2342+2T>A
NM_001300785.2:c.2093+2T>A NP_001287714.2:n.2093+2T>A
NM_001386140.1:c.2342+2T>A MANE Select NP_001373069.1:n.2342+2T>A