Canonical Allele Identifier: CA415300819

Gene: MECP2

Linked Data

• MyVariant Identifiers: chrX:g.153363061A>T (hg19) ; chrX:g.154097604A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097604A>T , CM000685.2:g.154097604A>T	GRCh38
NC_000023.10:g.153363061A>T , CM000685.1:g.153363061A>T	GRCh37
NC_000023.9:g.153016255A>T	NCBI36
NG_007107.2:g.44518T>A
NG_007107.3:g.44500T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.22T>A
ENST00000303391.11:c.-99T>A MANE Plus Clinical	ENSP00000301948.6:n.-99T>A
ENST00000453960.7:c.62T>A MANE Select	ENSP00000395535.2:p.Leu21Gln
ENST00000676382.1:n.22T>A
ENST00000303391.10:c.-99T>A	ENSP00000301948.6:n.-99T>A
ENST00000369957.5:c.-99T>A	ENSP00000358973.4:n.-99T>A
ENST00000407218.5:c.62T>A	ENSP00000384865.2:p.Leu21Gln
ENST00000453960.6:c.62T>A	ENSP00000395535.2:p.Leu21Gln
ENST00000619732.4:c.-99T>A	ENSP00000480973.1:n.-99T>A
ENST00000627864.1:n.77T>A
ENST00000628176.2:c.-99T>A	ENSP00000486978.1:n.-99T>A
ENST00000631210.1:n.305+7177T>A
NM_001110792.1:c.62T>A	NP_001104262.1:p.Leu21Gln
NM_001316337.1:c.-546T>A	NP_001303266.1:n.-546T>A
NM_004992.3:c.-99T>A	NP_004983.1:n.-99T>A
XM_005274682.3:c.-490T>A	XP_005274739.1:n.-490T>A
NM_001110792.2:c.62T>A MANE Select	NP_001104262.1:p.Leu21Gln
NM_001316337.2:c.-546T>A	NP_001303266.1:n.-546T>A
NM_001369391.2:c.-841T>A	NP_001356320.1:n.-841T>A
NM_001369392.2:c.-490T>A	NP_001356321.1:n.-490T>A
NM_001369393.2:c.-366T>A	NP_001356322.1:n.-366T>A
NM_001386137.1:c.-771T>A	NP_001373066.1:n.-771T>A
NM_001386138.1:c.-659T>A	NP_001373067.1:n.-659T>A
NM_001386139.1:c.-535T>A	NP_001373068.1:n.-535T>A
NM_004992.4:c.-99T>A MANE Plus Clinical	NP_004983.1:n.-99T>A