Canonical Allele Identifier: CA415300900

Gene: MECP2

Linked Data

• gnomAD v4: X-154097608-T-A
• MyVariant Identifiers: chrX:g.153363065T>A (hg19) ; chrX:g.154097608T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097608T>A , CM000685.2:g.154097608T>A	GRCh38
NC_000023.10:g.153363065T>A , CM000685.1:g.153363065T>A	GRCh37
NC_000023.9:g.153016259T>A	NCBI36
NG_007107.2:g.44514A>T
NG_007107.3:g.44496A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.18A>T
ENST00000303391.11:c.-103A>T MANE Plus Clinical	ENSP00000301948.6:n.-103A>T
ENST00000453960.7:c.58A>T MANE Select	ENSP00000395535.2:p.Arg20Ter
ENST00000676382.1:n.18A>T
ENST00000303391.10:c.-103A>T	ENSP00000301948.6:n.-103A>T
ENST00000369957.5:c.-103A>T	ENSP00000358973.4:n.-103A>T
ENST00000407218.5:c.58A>T	ENSP00000384865.2:p.Arg20Ter
ENST00000453960.6:c.58A>T	ENSP00000395535.2:p.Arg20Ter
ENST00000619732.4:c.-103A>T	ENSP00000480973.1:n.-103A>T
ENST00000627864.1:n.73A>T
ENST00000628176.2:c.-103A>T	ENSP00000486978.1:n.-103A>T
ENST00000631210.1:n.305+7173A>T
NM_001110792.1:c.58A>T	NP_001104262.1:p.Arg20Ter
NM_001316337.1:c.-550A>T	NP_001303266.1:n.-550A>T
NM_004992.3:c.-103A>T	NP_004983.1:n.-103A>T
XM_005274682.3:c.-494A>T	XP_005274739.1:n.-494A>T
NM_001110792.2:c.58A>T MANE Select	NP_001104262.1:p.Arg20Ter
NM_001316337.2:c.-550A>T	NP_001303266.1:n.-550A>T
NM_001369391.2:c.-845A>T	NP_001356320.1:n.-845A>T
NM_001369392.2:c.-494A>T	NP_001356321.1:n.-494A>T
NM_001369393.2:c.-370A>T	NP_001356322.1:n.-370A>T
NM_001386137.1:c.-775A>T	NP_001373066.1:n.-775A>T
NM_001386138.1:c.-663A>T	NP_001373067.1:n.-663A>T
NM_001386139.1:c.-539A>T	NP_001373068.1:n.-539A>T
NM_004992.4:c.-103A>T MANE Plus Clinical	NP_004983.1:n.-103A>T