Canonical Allele Identifier: CA440328598

Gene: MTTP

Linked Data

• gnomAD v4: 4-99583409-G-A
• MyVariant Identifiers: chr4:g.100504566G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583409G>A , CM000666.2:g.99583409G>A	GRCh38
NC_000004.11:g.100504566G>A , CM000666.1:g.100504566G>A	GRCh37
NC_000004.10:g.100723589G>A	NCBI36
NG_011469.1:g.24327G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.285G>A MANE Select	ENSP00000265517.5:p.Gln95=
ENST00000457717.6:c.285G>A	ENSP00000400821.1:p.Gln95=
ENST00000505094.6:c.36G>A	ENSP00000422782.2:p.Gln12=
ENST00000511045.6:c.36G>A	ENSP00000427679.2:p.Gln12=
ENST00000265517.9:c.285G>A	ENSP00000265517.5:p.Gln95=
ENST00000422897.6:c.285G>A	ENSP00000407350.2:p.Gln95=
ENST00000457717.5:c.285G>A	ENSP00000400821.1:p.Gln95=
ENST00000505094.5:c.*375G>A	ENSP00000422782.1:n.*375G>A
ENST00000506883.5:c.315G>A	ENSP00000426755.1:p.Gln105=
ENST00000511045.5:c.366G>A	ENSP00000427679.1:p.Gln122=
ENST00000513404.5:c.*348G>A	ENSP00000424972.1:n.*348G>A
ENST00000515141.5:c.*348G>A	ENSP00000425642.1:n.*348G>A
ENST00000619629.1:c.285G>A	ENSP00000482850.1:p.Gln95=
NM_000253.3:c.285G>A	NP_000244.2:p.Gln95=
NM_001300785.1:c.366G>A	NP_001287714.1:p.Gln122=
NM_000253.4:c.285G>A	NP_000244.2:p.Gln95=
NM_001300785.2:c.36G>A	NP_001287714.2:p.Gln12=
NM_001386140.1:c.285G>A MANE Select	NP_001373069.1:p.Gln95=