Canonical Allele Identifier: CA415298985

Gene: MECP2

Linked Data

• gnomAD v4: X-154092192-T-A
• MyVariant Identifiers: chrX:g.153357650T>A (hg19) ; chrX:g.154092192T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154092192T>A , CM000685.2:g.154092192T>A	GRCh38
NC_000023.10:g.153357650T>A , CM000685.1:g.153357650T>A	GRCh37
NC_000023.9:g.153010844T>A	NCBI36
NG_007107.2:g.49929A>T
NG_007107.3:g.49912A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700484.1:n.22+5412A>T
ENST00000303391.11:c.18A>T MANE Plus Clinical	ENSP00000301948.6:p.Leu6Phe
ENST00000453960.7:c.62+5412A>T MANE Select	ENSP00000395535.2:n.62+5412A>T
ENST00000611468.2:n.116A>T
ENST00000630151.2:c.18A>T	ENSP00000486089.1:p.Leu6Phe
ENST00000637533.1:n.57+4777A>T
ENST00000637791.1:n.70A>T
ENST00000674996.1:c.18A>T	ENSP00000502832.1:p.Leu6Phe
ENST00000675526.1:c.18A>T	ENSP00000501710.1:p.Leu6Phe
ENST00000675841.1:n.116A>T
ENST00000676382.1:n.22+5412A>T
ENST00000303391.10:c.18A>T	ENSP00000301948.6:p.Leu6Phe
ENST00000369957.5:c.18A>T	ENSP00000358973.4:p.Leu6Phe
ENST00000407218.5:c.62+5412A>T	ENSP00000384865.2:n.62+5412A>T
ENST00000415944.3:c.18A>T	ENSP00000416267.1:p.Leu6Phe
ENST00000453960.6:c.62+5412A>T	ENSP00000395535.2:n.62+5412A>T
ENST00000496908.5:n.157+4621A>T
ENST00000611468.1:c.6A>T	ENSP00000479736.1:p.Leu2Phe
ENST00000619732.4:c.18A>T	ENSP00000480973.1:p.Leu6Phe
ENST00000622433.4:c.6A>T	ENSP00000484470.1:p.Leu2Phe
ENST00000627864.1:n.193A>T
ENST00000628176.2:c.18A>T	ENSP00000486978.1:p.Leu6Phe
ENST00000630151.1:c.18A>T	ENSP00000486089.1:p.Leu6Phe
ENST00000631210.1:n.305+12589A>T
NM_001110792.1:c.62+5412A>T	NP_001104262.1:n.62+5412A>T
NM_001316337.1:c.-430A>T	NP_001303266.1:n.-430A>T
NM_004992.3:c.18A>T	NP_004983.1:p.Leu6Phe
XM_005274681.3:c.18A>T	XP_005274738.1:p.Leu6Phe
XM_005274682.3:c.-374A>T	XP_005274739.1:n.-374A>T
XM_024452383.1:c.-800A>T	XP_024308151.1:n.-800A>T
XM_024452384.1:c.-374A>T	XP_024308152.1:n.-374A>T
NM_001110792.2:c.62+5412A>T MANE Select	NP_001104262.1:n.62+5412A>T
NM_001316337.2:c.-430A>T	NP_001303266.1:n.-430A>T
NM_001369391.2:c.-725A>T	NP_001356320.1:n.-725A>T
NM_001369392.2:c.-374A>T	NP_001356321.1:n.-374A>T
NM_001369393.2:c.-366+5412A>T	NP_001356322.1:n.-366+5412A>T
NM_001369394.1:c.-254+4621A>T	NP_001356323.1:n.-254+4621A>T
NM_001369394.2:c.-254+4621A>T	NP_001356323.1:n.-254+4621A>T
NM_001386137.1:c.-655A>T	NP_001373066.1:n.-655A>T
NM_001386138.1:c.-543A>T	NP_001373067.1:n.-543A>T
NM_001386139.1:c.-535+5412A>T	NP_001373068.1:n.-535+5412A>T
NM_004992.4:c.18A>T MANE Plus Clinical	NP_004983.1:p.Leu6Phe