Canonical Allele Identifier: CA274678

Gene: MECP2

Linked Data

• ClinVar Variation Id: 189776
• ClinVar RCV Id: RCV000170294 ; RCV000558865
• dbSNP Id: rs786205048
• gnomAD v4: X-154097603-C-T
• MyVariant Identifiers: chrX:g.153363060C>T (hg19) ; chrX:g.154097603C>T (hg38)
• ERepo: CA274678/MONDO:0010726/016
• PubMed: PMID:15737703

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097603C>T , CM000685.2:g.154097603C>T	GRCh38
NC_000023.10:g.153363060C>T , CM000685.1:g.153363060C>T	GRCh37
NC_000023.9:g.153016254C>T	NCBI36
NG_007107.2:g.44519G>A
NG_007107.3:g.44501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.22+1G>A
ENST00000303391.11:c.-99+1G>A MANE Plus Clinical	ENSP00000301948.6:n.-99+1G>A
ENST00000453960.7:c.62+1G>A MANE Select	ENSP00000395535.2:n.62+1G>A
ENST00000676382.1:n.22+1G>A
ENST00000303391.10:c.-99+1G>A	ENSP00000301948.6:n.-99+1G>A
ENST00000369957.5:c.-99+1G>A	ENSP00000358973.4:n.-99+1G>A
ENST00000407218.5:c.62+1G>A	ENSP00000384865.2:n.62+1G>A
ENST00000453960.6:c.62+1G>A	ENSP00000395535.2:n.62+1G>A
ENST00000619732.4:c.-99+1G>A	ENSP00000480973.1:n.-99+1G>A
ENST00000627864.1:n.77+1G>A
ENST00000628176.2:c.-99+1G>A	ENSP00000486978.1:n.-99+1G>A
ENST00000631210.1:n.305+7178G>A
NM_001110792.1:c.62+1G>A	NP_001104262.1:n.62+1G>A
NM_001316337.1:c.-546+1G>A	NP_001303266.1:n.-546+1G>A
NM_004992.3:c.-99+1G>A	NP_004983.1:n.-99+1G>A
XM_005274682.3:c.-490+1G>A	XP_005274739.1:n.-490+1G>A
NM_001110792.2:c.62+1G>A MANE Select	NP_001104262.1:n.62+1G>A
NM_001316337.2:c.-546+1G>A	NP_001303266.1:n.-546+1G>A
NM_001369391.2:c.-841+1G>A	NP_001356320.1:n.-841+1G>A
NM_001369392.2:c.-490+1G>A	NP_001356321.1:n.-490+1G>A
NM_001369393.2:c.-366+1G>A	NP_001356322.1:n.-366+1G>A
NM_001386137.1:c.-771+1G>A	NP_001373066.1:n.-771+1G>A
NM_001386138.1:c.-659+1G>A	NP_001373067.1:n.-659+1G>A
NM_001386139.1:c.-535+1G>A	NP_001373068.1:n.-535+1G>A
NM_004992.4:c.-99+1G>A MANE Plus Clinical	NP_004983.1:n.-99+1G>A