Canonical Allele Identifier: CA415298896

Gene: MECP2

Linked Data

• MyVariant Identifiers: chrX:g.153357646G>A (hg19) ; chrX:g.154092188G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154092188G>A , CM000685.2:g.154092188G>A	GRCh38
NC_000023.10:g.153357646G>A , CM000685.1:g.153357646G>A	GRCh37
NC_000023.9:g.153010840G>A	NCBI36
NG_007107.2:g.49933C>T
NG_007107.3:g.49916C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700484.1:n.22+5416C>T
ENST00000303391.11:c.22C>T MANE Plus Clinical	ENSP00000301948.6:p.Leu8Phe
ENST00000453960.7:c.62+5416C>T MANE Select	ENSP00000395535.2:n.62+5416C>T
ENST00000611468.2:n.120C>T
ENST00000630151.2:c.22C>T	ENSP00000486089.1:p.Leu8Phe
ENST00000637533.1:n.57+4781C>T
ENST00000637791.1:n.74C>T
ENST00000674996.1:c.22C>T	ENSP00000502832.1:p.Leu8Phe
ENST00000675526.1:c.22C>T	ENSP00000501710.1:p.Leu8Phe
ENST00000675841.1:n.120C>T
ENST00000676382.1:n.22+5416C>T
ENST00000303391.10:c.22C>T	ENSP00000301948.6:p.Leu8Phe
ENST00000369957.5:c.22C>T	ENSP00000358973.4:p.Leu8Phe
ENST00000407218.5:c.62+5416C>T	ENSP00000384865.2:n.62+5416C>T
ENST00000415944.3:c.22C>T	ENSP00000416267.1:p.Leu8Phe
ENST00000453960.6:c.62+5416C>T	ENSP00000395535.2:n.62+5416C>T
ENST00000496908.5:n.157+4625C>T
ENST00000611468.1:c.10C>T	ENSP00000479736.1:p.Leu4Phe
ENST00000619732.4:c.22C>T	ENSP00000480973.1:p.Leu8Phe
ENST00000622433.4:c.10C>T	ENSP00000484470.1:p.Leu4Phe
ENST00000627864.1:n.197C>T
ENST00000628176.2:c.22C>T	ENSP00000486978.1:p.Leu8Phe
ENST00000630151.1:c.22C>T	ENSP00000486089.1:p.Leu8Phe
ENST00000631210.1:n.305+12593C>T
NM_001110792.1:c.62+5416C>T	NP_001104262.1:n.62+5416C>T
NM_001316337.1:c.-426C>T	NP_001303266.1:n.-426C>T
NM_004992.3:c.22C>T	NP_004983.1:p.Leu8Phe
XM_005274681.3:c.22C>T	XP_005274738.1:p.Leu8Phe
XM_005274682.3:c.-370C>T	XP_005274739.1:n.-370C>T
XM_024452383.1:c.-796C>T	XP_024308151.1:n.-796C>T
XM_024452384.1:c.-370C>T	XP_024308152.1:n.-370C>T
NM_001110792.2:c.62+5416C>T MANE Select	NP_001104262.1:n.62+5416C>T
NM_001316337.2:c.-426C>T	NP_001303266.1:n.-426C>T
NM_001369391.2:c.-721C>T	NP_001356320.1:n.-721C>T
NM_001369392.2:c.-370C>T	NP_001356321.1:n.-370C>T
NM_001369393.2:c.-366+5416C>T	NP_001356322.1:n.-366+5416C>T
NM_001369394.1:c.-254+4625C>T	NP_001356323.1:n.-254+4625C>T
NM_001369394.2:c.-254+4625C>T	NP_001356323.1:n.-254+4625C>T
NM_001386137.1:c.-651C>T	NP_001373066.1:n.-651C>T
NM_001386138.1:c.-539C>T	NP_001373067.1:n.-539C>T
NM_001386139.1:c.-535+5416C>T	NP_001373068.1:n.-535+5416C>T
NM_004992.4:c.22C>T MANE Plus Clinical	NP_004983.1:p.Leu8Phe