Canonical Allele Identifier: CA2466594794

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097648G= , CM000685.2:g.154097648G=	GRCh38
NC_000023.10:g.153363105G= , CM000685.1:g.153363105G=	GRCh37
NC_000023.9:g.153016299G=	NCBI36
NG_007107.2:g.44474C=
NG_007107.3:g.44456C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-143C= MANE Plus Clinical	ENSP00000301948.6:n.-143C=
ENST00000453960.7:c.18C= MANE Select	ENSP00000395535.2:p.Ala6=
ENST00000303391.10:c.-143C=	ENSP00000301948.6:n.-143C=
ENST00000369957.5:c.-143C=	ENSP00000358973.4:n.-143C=
ENST00000407218.5:c.18C=	ENSP00000384865.2:p.Ala6=
ENST00000453960.6:c.18C=	ENSP00000395535.2:p.Ala6=
ENST00000619732.4:c.-143C=	ENSP00000480973.1:n.-143C=
ENST00000627864.1:n.33C=
ENST00000628176.2:c.-143C=	ENSP00000486978.1:n.-143C=
ENST00000631210.1:n.305+7133C=
NM_001110792.1:c.18C=	NP_001104262.1:p.Ala6=
NM_001316337.1:c.-590C=	NP_001303266.1:n.-590C=
NM_004992.3:c.-143C=	NP_004983.1:n.-143C=
XM_005274682.3:c.-534C=	XP_005274739.1:n.-534C=
NM_001110792.2:c.18C= MANE Select	NP_001104262.1:p.Ala6=
NM_001316337.2:c.-590C=	NP_001303266.1:n.-590C=
NM_001369391.2:c.-885C=	NP_001356320.1:n.-885C=
NM_001369392.2:c.-534C=	NP_001356321.1:n.-534C=
NM_001369393.2:c.-410C=	NP_001356322.1:n.-410C=
NM_001386137.1:c.-815C=	NP_001373066.1:n.-815C=
NM_001386138.1:c.-703C=	NP_001373067.1:n.-703C=
NM_001386139.1:c.-579C=	NP_001373068.1:n.-579C=
NM_004992.4:c.-143C= MANE Plus Clinical	NP_004983.1:n.-143C=