Canonical Allele Identifier: CA2578152332

Gene: MTTP

Linked Data

• ClinVar Variation Id: 2113194
• ClinVar RCV Id: RCV003027193
• gnomAD v4: 4-99600561-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600561A>G , CM000666.2:g.99600561A>G	GRCh38
NC_000004.11:g.100521718A>G , CM000666.1:g.100521718A>G	GRCh37
NC_000004.10:g.100740741A>G	NCBI36
NG_011469.1:g.41479A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.1068-4A>G MANE Select	ENSP00000265517.5:n.1068-4A>G
ENST00000457717.6:c.1068-4A>G	ENSP00000400821.1:n.1068-4A>G
ENST00000511045.6:c.819-4A>G	ENSP00000427679.2:n.819-4A>G
ENST00000265517.9:c.1068-4A>G	ENSP00000265517.5:n.1068-4A>G
ENST00000457717.5:c.1068-4A>G	ENSP00000400821.1:n.1068-4A>G
ENST00000511045.5:c.1149-4A>G	ENSP00000427679.1:n.1149-4A>G
ENST00000619629.1:c.1068-4A>G	ENSP00000482850.1:n.1068-4A>G
NM_000253.3:c.1068-4A>G	NP_000244.2:n.1068-4A>G
NM_001300785.1:c.1149-4A>G	NP_001287714.1:n.1149-4A>G
NM_000253.4:c.1068-4A>G	NP_000244.2:n.1068-4A>G
NM_001300785.2:c.819-4A>G	NP_001287714.2:n.819-4A>G
NM_001386140.1:c.1068-4A>G MANE Select	NP_001373069.1:n.1068-4A>G