Canonical Allele Identifier: CA440328604
Gene: MTTP HGNC NCBI

Linked Data

dbSNP Id: rs2306986
MyVariant Identifiers: chr4:g.100504575G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583418G>A , CM000666.2:g.99583418G>A GRCh38
NC_000004.11:g.100504575G>A , CM000666.1:g.100504575G>A GRCh37
NC_000004.10:g.100723598G>A NCBI36
NG_011469.1:g.24336G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.294G>A MANE Select ENSP00000265517.5:p.Glu98=
ENST00000457717.6:c.294G>A ENSP00000400821.1:p.Glu98=
ENST00000505094.6:c.45G>A ENSP00000422782.2:p.Glu15=
ENST00000511045.6:c.45G>A ENSP00000427679.2:p.Glu15=
ENST00000265517.9:c.294G>A ENSP00000265517.5:p.Glu98=
ENST00000422897.6:c.294G>A ENSP00000407350.2:p.Glu98=
ENST00000457717.5:c.294G>A ENSP00000400821.1:p.Glu98=
ENST00000505094.5:c.*384G>A ENSP00000422782.1:n.*384G>A
ENST00000506883.5:c.324G>A ENSP00000426755.1:p.Glu108=
ENST00000511045.5:c.375G>A ENSP00000427679.1:p.Glu125=
ENST00000515141.5:c.*357G>A ENSP00000425642.1:n.*357G>A
ENST00000619629.1:c.294G>A ENSP00000482850.1:p.Glu98=
NM_000253.3:c.294G>A NP_000244.2:p.Glu98=
NM_001300785.1:c.375G>A NP_001287714.1:p.Glu125=
NM_000253.4:c.294G>A NP_000244.2:p.Glu98=
NM_001300785.2:c.45G>A NP_001287714.2:p.Glu15=
NM_001386140.1:c.294G>A MANE Select NP_001373069.1:p.Glu98=