Canonical Allele Identifier: CA16609353

Gene: MECP2

Linked Data

• ClinVar Variation Id: 393489
• ClinVar RCV Id: RCV000445574
• dbSNP Id: rs61748408
• MyVariant Identifiers: chrX:g.153296811G>T (hg19) ; chrX:g.154031360G>T (hg38)
• PubMed: PMID:10805343 ; PMID:11524741 ; PMID:12075485 ; PMID:12180070 ; PMID:15737703 ; PMID:16473305 ; PMID:18021529 ; PMID:19652677 ; PMID:19722030 ; PMID:21982064

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031360G>T , CM000685.2:g.154031360G>T	GRCh38
NC_000023.10:g.153296811G>T , CM000685.1:g.153296811G>T	GRCh37
NC_000023.9:g.152950005G>T	NCBI36
NG_007107.2:g.110768C>A
NG_007107.3:g.110744C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.468C>A MANE Plus Clinical	ENSP00000301948.6:p.Asp156Glu
ENST00000453960.7:c.504C>A MANE Select	ENSP00000395535.2:p.Asp168Glu
ENST00000637917.1:c.65+36C>A
ENST00000303391.10:c.468C>A	ENSP00000301948.6:p.Asp156Glu
ENST00000407218.5:c.468+36C>A	ENSP00000384865.2:n.468+36C>A
ENST00000453960.6:c.504C>A	ENSP00000395535.2:p.Asp168Glu
ENST00000486506.5:n.2816C>A
ENST00000611468.1:c.456C>A	ENSP00000479736.1:p.Asp152Glu
ENST00000619732.4:c.468C>A	ENSP00000480973.1:p.Asp156Glu
ENST00000622433.4:c.456C>A	ENSP00000484470.1:p.Asp152Glu
ENST00000628176.2:c.432+36C>A	ENSP00000486978.1:n.432+36C>A
NM_001110792.1:c.504C>A	NP_001104262.1:p.Asp168Glu
NM_001316337.1:c.189C>A	NP_001303266.1:p.Asp63Glu
NM_004992.3:c.468C>A	NP_004983.1:p.Asp156Glu
XM_005274681.3:c.468C>A	XP_005274738.1:p.Asp156Glu
XM_005274682.3:c.189C>A	XP_005274739.1:p.Asp63Glu
XM_005274683.3:c.189C>A	XP_005274740.1:p.Asp63Glu
XM_006724819.2:c.-129+36C>A	XP_006724882.1:n.-129+36C>A
XM_011531166.1:c.189C>A	XP_011529468.1:p.Asp63Glu
XM_006724819.3:c.-129+36C>A	XP_006724882.1:n.-129+36C>A
XM_011531166.2:c.189C>A	XP_011529468.1:p.Asp63Glu
XM_024452383.1:c.189C>A	XP_024308151.1:p.Asp63Glu
XM_024452384.1:c.189C>A	XP_024308152.1:p.Asp63Glu
NM_001110792.2:c.504C>A MANE Select	NP_001104262.1:p.Asp168Glu
NM_001316337.2:c.189C>A	NP_001303266.1:p.Asp63Glu
NM_001369391.2:c.189C>A	NP_001356320.1:p.Asp63Glu
NM_001369392.2:c.189C>A	NP_001356321.1:p.Asp63Glu
NM_001369393.2:c.189C>A	NP_001356322.1:p.Asp63Glu
NM_001369394.1:c.189C>A	NP_001356323.1:p.Asp63Glu
NM_001369394.2:c.189C>A	NP_001356323.1:p.Asp63Glu
NM_001386137.1:c.-129+36C>A	NP_001373066.1:n.-129+36C>A
NM_001386138.1:c.-129+36C>A	NP_001373067.1:n.-129+36C>A
NM_001386139.1:c.-129+36C>A	NP_001373068.1:n.-129+36C>A
NM_004992.4:c.468C>A MANE Plus Clinical	NP_004983.1:p.Asp156Glu