Canonical Allele Identifier: CA3021814

Gene: MTTP

Linked Data

• dbSNP Id: rs201722396
• ExAC: 4:100504683 G / A
• gnomAD v2: 4-100504683-G-A
• gnomAD v4: 4-99583526-G-A
• MyVariant Identifiers: chr4:g.100504683G>A (hg19) ; chr4:g.99583526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583526G>A , CM000666.2:g.99583526G>A	GRCh38
NC_000004.11:g.100504683G>A , CM000666.1:g.100504683G>A	GRCh37
NC_000004.10:g.100723706G>A	NCBI36
NG_011469.1:g.24444G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.393+9G>A MANE Select	ENSP00000265517.5:n.393+9G>A
ENST00000457717.6:c.393+9G>A	ENSP00000400821.1:n.393+9G>A
ENST00000511045.6:c.144+9G>A	ENSP00000427679.2:n.144+9G>A
ENST00000265517.9:c.393+9G>A	ENSP00000265517.5:n.393+9G>A
ENST00000422897.6:c.402G>A	ENSP00000407350.2:p.Gly134=
ENST00000457717.5:c.393+9G>A	ENSP00000400821.1:n.393+9G>A
ENST00000506883.5:c.423+9G>A	ENSP00000426755.1:n.423+9G>A
ENST00000511045.5:c.474+9G>A	ENSP00000427679.1:n.474+9G>A
ENST00000619629.1:c.393+9G>A	ENSP00000482850.1:n.393+9G>A
NM_000253.3:c.393+9G>A	NP_000244.2:n.393+9G>A
NM_001300785.1:c.474+9G>A	NP_001287714.1:n.474+9G>A
NM_000253.4:c.393+9G>A	NP_000244.2:n.393+9G>A
NM_001300785.2:c.144+9G>A	NP_001287714.2:n.144+9G>A
NM_001386140.1:c.393+9G>A MANE Select	NP_001373069.1:n.393+9G>A