Canonical Allele Identifier: CA3022404

Gene: MTTP

Linked Data

• dbSNP Id: rs544643492
• ExAC: 4:100543888 G / A
• gnomAD v2: 4-100543888-G-A
• gnomAD v3: 4-99622731-G-A
• gnomAD v4: 4-99622731-G-A
• MyVariant Identifiers: chr4:g.100543888G>A (hg19) ; chr4:g.99622731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622731G>A , CM000666.2:g.99622731G>A	GRCh38
NC_000004.11:g.100543888G>A , CM000666.1:g.100543888G>A	GRCh37
NC_000004.10:g.100762911G>A	NCBI36
NG_011469.1:g.63649G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2568G>A MANE Select	ENSP00000265517.5:p.Gln856=
ENST00000457717.6:c.2568G>A	ENSP00000400821.1:p.Gln856=
ENST00000511045.6:c.2319G>A	ENSP00000427679.2:p.Gln773=
ENST00000265517.9:c.2568G>A	ENSP00000265517.5:p.Gln856=
ENST00000457717.5:c.2568G>A	ENSP00000400821.1:p.Gln856=
ENST00000511045.5:c.2649G>A	ENSP00000427679.1:p.Gln883=
ENST00000619629.1:c.*1015G>A	ENSP00000482850.1:n.*1015G>A
NM_000253.3:c.2568G>A	NP_000244.2:p.Gln856=
NM_001300785.1:c.2649G>A	NP_001287714.1:p.Gln883=
NM_000253.4:c.2568G>A	NP_000244.2:p.Gln856=
NM_001300785.2:c.2319G>A	NP_001287714.2:p.Gln773=
NM_001386140.1:c.2568G>A MANE Select	NP_001373069.1:p.Gln856=