Canonical Allele Identifier: CA3022255

Gene: MTTP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99611445G>A , CM000666.2:g.99611445G>A	GRCh38
NC_000004.11:g.100532602G>A , CM000666.1:g.100532602G>A	GRCh37
NC_000004.10:g.100751625G>A	NCBI36
NG_011469.1:g.52363G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001386140.1:c.1981G>A MANE Select	NP_001373069.1:p.Gly661Ser
ENST00000265517.10:c.1981G>A MANE Select	ENSP00000265517.5:p.Gly661Ser
NM_000253.3:c.1981G>A	NP_000244.2:p.Gly661Ser
NM_000253.4:c.1981G>A	NP_000244.2:p.Gly661Ser
NM_001300785.1:c.2062G>A	NP_001287714.1:p.Gly688Ser
NM_001300785.2:c.1732G>A	NP_001287714.2:p.Gly578Ser
ENST00000265517.9:c.1981G>A	ENSP00000265517.5:p.Gly661Ser
ENST00000457717.5:c.1981G>A	ENSP00000400821.1:p.Gly661Ser
ENST00000457717.6:c.1981G>A	ENSP00000400821.1:p.Gly661Ser
ENST00000511045.5:c.2062G>A	ENSP00000427679.1:p.Gly688Ser
ENST00000511045.6:c.1732G>A	ENSP00000427679.2:p.Gly578Ser
ENST00000619629.1:c.*428G>A	ENSP00000482850.1:n.*428G>A