Canonical Allele Identifier: CA2573138635
Community Standard Title: NM_001386140.1(MTTP):c.249+19A>G
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99582111A>G , CM000666.2:g.99582111A>G GRCh38
NC_000004.11:g.100503268A>G , CM000666.1:g.100503268A>G GRCh37
NC_000004.10:g.100722291A>G NCBI36
NG_011469.1:g.23029A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001386140.1:c.249+19A>G MANE Select NP_001373069.1:n.249+19A>G
ENST00000265517.10:c.249+19A>G MANE Select ENSP00000265517.5:n.249+19A>G
NM_000253.3:c.249+19A>G NP_000244.2:n.249+19A>G
NM_000253.4:c.249+19A>G NP_000244.2:n.249+19A>G
NM_001300785.1:c.330+19A>G NP_001287714.1:n.330+19A>G
NM_001300785.2:c.-1+19A>G NP_001287714.2:n.-1+19A>G
ENST00000265517.9:c.249+19A>G ENSP00000265517.5:n.249+19A>G
ENST00000422897.6:c.249+19A>G ENSP00000407350.2:n.249+19A>G
ENST00000457717.5:c.249+19A>G ENSP00000400821.1:n.249+19A>G
ENST00000457717.6:c.249+19A>G ENSP00000400821.1:n.249+19A>G
ENST00000505094.5:c.*339+19A>G ENSP00000422782.1:n.*339+19A>G
ENST00000505094.6:c.-1+19A>G ENSP00000422782.2:n.-1+19A>G
ENST00000506883.5:c.279+19A>G ENSP00000426755.1:n.279+19A>G
ENST00000511045.5:c.330+19A>G ENSP00000427679.1:n.330+19A>G
ENST00000511045.6:c.-1+19A>G ENSP00000427679.2:n.-1+19A>G
ENST00000513404.5:c.*312+19A>G ENSP00000424972.1:n.*312+19A>G
ENST00000515141.5:c.*312+19A>G ENSP00000425642.1:n.*312+19A>G
ENST00000619629.1:c.249+19A>G ENSP00000482850.1:n.249+19A>G