Canonical Allele Identifier: CA415301126

Gene: MECP2

Linked Data

• ClinVar Variation Id: 514291
• ClinVar RCV Id: RCV000606190
• dbSNP Id: rs1333935838
• gnomAD v3: X-154097622-C-T
• gnomAD v4: X-154097622-C-T
• MyVariant Identifiers: chrX:g.153363079C>T (hg19) ; chrX:g.154097622C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097622C>T , CM000685.2:g.154097622C>T	GRCh38
NC_000023.10:g.153363079C>T , CM000685.1:g.153363079C>T	GRCh37
NC_000023.9:g.153016273C>T	NCBI36
NG_007107.2:g.44500G>A
NG_007107.3:g.44482G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.4G>A
ENST00000303391.11:c.-117G>A MANE Plus Clinical	ENSP00000301948.6:n.-117G>A
ENST00000453960.7:c.44G>A MANE Select	ENSP00000395535.2:p.Gly15Glu
ENST00000676382.1:n.4G>A
ENST00000303391.10:c.-117G>A	ENSP00000301948.6:n.-117G>A
ENST00000369957.5:c.-117G>A	ENSP00000358973.4:n.-117G>A
ENST00000407218.5:c.44G>A	ENSP00000384865.2:p.Gly15Glu
ENST00000453960.6:c.44G>A	ENSP00000395535.2:p.Gly15Glu
ENST00000619732.4:c.-117G>A	ENSP00000480973.1:n.-117G>A
ENST00000627864.1:n.59G>A
ENST00000628176.2:c.-117G>A	ENSP00000486978.1:n.-117G>A
ENST00000631210.1:n.305+7159G>A
NM_001110792.1:c.44G>A	NP_001104262.1:p.Gly15Glu
NM_001316337.1:c.-564G>A	NP_001303266.1:n.-564G>A
NM_004992.3:c.-117G>A	NP_004983.1:n.-117G>A
XM_005274682.3:c.-508G>A	XP_005274739.1:n.-508G>A
NM_001110792.2:c.44G>A MANE Select	NP_001104262.1:p.Gly15Glu
NM_001316337.2:c.-564G>A	NP_001303266.1:n.-564G>A
NM_001369391.2:c.-859G>A	NP_001356320.1:n.-859G>A
NM_001369392.2:c.-508G>A	NP_001356321.1:n.-508G>A
NM_001369393.2:c.-384G>A	NP_001356322.1:n.-384G>A
NM_001386137.1:c.-789G>A	NP_001373066.1:n.-789G>A
NM_001386138.1:c.-677G>A	NP_001373067.1:n.-677G>A
NM_001386139.1:c.-553G>A	NP_001373068.1:n.-553G>A
NM_004992.4:c.-117G>A MANE Plus Clinical	NP_004983.1:n.-117G>A