Canonical Allele Identifier: CA415301045

Gene: MECP2

Linked Data

• MyVariant Identifiers: chrX:g.153363073T>A (hg19) ; chrX:g.154097616T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097616T>A , CM000685.2:g.154097616T>A	GRCh38
NC_000023.10:g.153363073T>A , CM000685.1:g.153363073T>A	GRCh37
NC_000023.9:g.153016267T>A	NCBI36
NG_007107.2:g.44506A>T
NG_007107.3:g.44488A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.10A>T
ENST00000303391.11:c.-111A>T MANE Plus Clinical	ENSP00000301948.6:n.-111A>T
ENST00000453960.7:c.50A>T MANE Select	ENSP00000395535.2:p.Glu17Val
ENST00000676382.1:n.10A>T
ENST00000303391.10:c.-111A>T	ENSP00000301948.6:n.-111A>T
ENST00000369957.5:c.-111A>T	ENSP00000358973.4:n.-111A>T
ENST00000407218.5:c.50A>T	ENSP00000384865.2:p.Glu17Val
ENST00000453960.6:c.50A>T	ENSP00000395535.2:p.Glu17Val
ENST00000619732.4:c.-111A>T	ENSP00000480973.1:n.-111A>T
ENST00000627864.1:n.65A>T
ENST00000628176.2:c.-111A>T	ENSP00000486978.1:n.-111A>T
ENST00000631210.1:n.305+7165A>T
NM_001110792.1:c.50A>T	NP_001104262.1:p.Glu17Val
NM_001316337.1:c.-558A>T	NP_001303266.1:n.-558A>T
NM_004992.3:c.-111A>T	NP_004983.1:n.-111A>T
XM_005274682.3:c.-502A>T	XP_005274739.1:n.-502A>T
NM_001110792.2:c.50A>T MANE Select	NP_001104262.1:p.Glu17Val
NM_001316337.2:c.-558A>T	NP_001303266.1:n.-558A>T
NM_001369391.2:c.-853A>T	NP_001356320.1:n.-853A>T
NM_001369392.2:c.-502A>T	NP_001356321.1:n.-502A>T
NM_001369393.2:c.-378A>T	NP_001356322.1:n.-378A>T
NM_001386137.1:c.-783A>T	NP_001373066.1:n.-783A>T
NM_001386138.1:c.-671A>T	NP_001373067.1:n.-671A>T
NM_001386139.1:c.-547A>T	NP_001373068.1:n.-547A>T
NM_004992.4:c.-111A>T MANE Plus Clinical	NP_004983.1:n.-111A>T