Canonical Allele Identifier: CA2671532948

Gene: MTTP

Linked Data

• gnomAD v4: 4-99583688-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583688G>T , CM000666.2:g.99583688G>T	GRCh38
NC_000004.11:g.100504845G>T , CM000666.1:g.100504845G>T	GRCh37
NC_000004.10:g.100723868G>T	NCBI36
NG_011469.1:g.24606G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.393+171G>T MANE Select	ENSP00000265517.5:n.393+171G>T
ENST00000457717.6:c.393+171G>T	ENSP00000400821.1:n.393+171G>T
ENST00000511045.6:c.144+171G>T	ENSP00000427679.2:n.144+171G>T
ENST00000265517.9:c.393+171G>T	ENSP00000265517.5:n.393+171G>T
ENST00000422897.6:c.*108G>T	ENSP00000407350.2:n.*108G>T
ENST00000457717.5:c.393+171G>T	ENSP00000400821.1:n.393+171G>T
ENST00000506883.5:c.423+171G>T	ENSP00000426755.1:n.423+171G>T
ENST00000511045.5:c.474+171G>T	ENSP00000427679.1:n.474+171G>T
ENST00000619629.1:c.393+171G>T	ENSP00000482850.1:n.393+171G>T
NM_000253.3:c.393+171G>T	NP_000244.2:n.393+171G>T
NM_001300785.1:c.474+171G>T	NP_001287714.1:n.474+171G>T
NM_000253.4:c.393+171G>T	NP_000244.2:n.393+171G>T
NM_001300785.2:c.144+171G>T	NP_001287714.2:n.144+171G>T
NM_001386140.1:c.393+171G>T MANE Select	NP_001373069.1:n.393+171G>T