Canonical Allele Identifier: CA649232797

Gene: MTTP

Linked Data

• gnomAD v4: 4-99583698-C-T
• COSMIC: COSN17082550

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583698C>T , CM000666.2:g.99583698C>T	GRCh38
NC_000004.11:g.100504855C>T , CM000666.1:g.100504855C>T	GRCh37
NC_000004.10:g.100723878C>T	NCBI36
NG_011469.1:g.24616C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.393+181C>T MANE Select	ENSP00000265517.5:n.393+181C>T
ENST00000457717.6:c.393+181C>T	ENSP00000400821.1:n.393+181C>T
ENST00000511045.6:c.144+181C>T	ENSP00000427679.2:n.144+181C>T
ENST00000265517.9:c.393+181C>T	ENSP00000265517.5:n.393+181C>T
ENST00000422897.6:c.*118C>T	ENSP00000407350.2:n.*118C>T
ENST00000457717.5:c.393+181C>T	ENSP00000400821.1:n.393+181C>T
ENST00000506883.5:c.423+181C>T	ENSP00000426755.1:n.423+181C>T
ENST00000511045.5:c.474+181C>T	ENSP00000427679.1:n.474+181C>T
ENST00000619629.1:c.393+181C>T	ENSP00000482850.1:n.393+181C>T
NM_000253.3:c.393+181C>T	NP_000244.2:n.393+181C>T
NM_001300785.1:c.474+181C>T	NP_001287714.1:n.474+181C>T
NM_000253.4:c.393+181C>T	NP_000244.2:n.393+181C>T
NM_001300785.2:c.144+181C>T	NP_001287714.2:n.144+181C>T
NM_001386140.1:c.393+181C>T MANE Select	NP_001373069.1:n.393+181C>T