Canonical Allele Identifier: CA3022389

Gene: MTTP

Linked Data

• dbSNP Id: rs761597828
• ExAC: 4:100543802 G / T
• gnomAD v2: 4-100543802-G-T
• gnomAD v4: 4-99622645-G-T
• MyVariant Identifiers: chr4:g.100543802G>T (hg19) ; chr4:g.99622645G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622645G>T , CM000666.2:g.99622645G>T	GRCh38
NC_000004.11:g.100543802G>T , CM000666.1:g.100543802G>T	GRCh37
NC_000004.10:g.100762825G>T	NCBI36
NG_011469.1:g.63563G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2514-32G>T MANE Select	ENSP00000265517.5:n.2514-32G>T
ENST00000457717.6:c.2514-32G>T	ENSP00000400821.1:n.2514-32G>T
ENST00000511045.6:c.2265-32G>T	ENSP00000427679.2:n.2265-32G>T
ENST00000265517.9:c.2514-32G>T	ENSP00000265517.5:n.2514-32G>T
ENST00000457717.5:c.2514-32G>T	ENSP00000400821.1:n.2514-32G>T
ENST00000511045.5:c.2595-32G>T	ENSP00000427679.1:n.2595-32G>T
ENST00000619629.1:c.*961-32G>T	ENSP00000482850.1:n.*961-32G>T
NM_000253.3:c.2514-32G>T	NP_000244.2:n.2514-32G>T
NM_001300785.1:c.2595-32G>T	NP_001287714.1:n.2595-32G>T
NM_000253.4:c.2514-32G>T	NP_000244.2:n.2514-32G>T
NM_001300785.2:c.2265-32G>T	NP_001287714.2:n.2265-32G>T
NM_001386140.1:c.2514-32G>T MANE Select	NP_001373069.1:n.2514-32G>T