Canonical Allele Identifier: CA270376

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143553
• ClinVar RCV Id: RCV000133086 ; RCV000698528
• dbSNP Id: rs267608469
• MyVariant Identifiers: chrX:g.153296897G>A (hg19) ; chrX:g.154031446G>A (hg38)
• PubMed: PMID:16473305 ; PMID:22476991

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031446G>A , CM000685.2:g.154031446G>A	GRCh38
NC_000023.10:g.153296897G>A , CM000685.1:g.153296897G>A	GRCh37
NC_000023.9:g.152950091G>A	NCBI36
NG_007107.2:g.110682C>T
NG_007107.3:g.110658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.382C>T MANE Plus Clinical	ENSP00000301948.6:p.Gln128Ter
ENST00000453960.7:c.418C>T MANE Select	ENSP00000395535.2:p.Gln140Ter
ENST00000637917.1:c.15C>T
ENST00000303391.10:c.382C>T	ENSP00000301948.6:p.Gln128Ter
ENST00000369957.5:c.*436C>T	ENSP00000358973.4:n.*436C>T
ENST00000407218.5:c.418C>T	ENSP00000384865.2:p.Gln140Ter
ENST00000453960.6:c.418C>T	ENSP00000395535.2:p.Gln140Ter
ENST00000486506.5:n.2730C>T
ENST00000611468.1:c.370C>T	ENSP00000479736.1:p.Gln124Ter
ENST00000619732.4:c.382C>T	ENSP00000480973.1:p.Gln128Ter
ENST00000622433.4:c.370C>T	ENSP00000484470.1:p.Gln124Ter
ENST00000628176.2:c.382C>T	ENSP00000486978.1:p.Gln128Ter
NM_001110792.1:c.418C>T	NP_001104262.1:p.Gln140Ter
NM_001316337.1:c.103C>T	NP_001303266.1:p.Gln35Ter
NM_004992.3:c.382C>T	NP_004983.1:p.Gln128Ter
XM_005274681.3:c.382C>T	XP_005274738.1:p.Gln128Ter
XM_005274682.3:c.103C>T	XP_005274739.1:p.Gln35Ter
XM_005274683.3:c.103C>T	XP_005274740.1:p.Gln35Ter
XM_006724819.2:c.-179C>T	XP_006724882.1:n.-179C>T
XM_011531166.1:c.103C>T	XP_011529468.1:p.Gln35Ter
XM_006724819.3:c.-179C>T	XP_006724882.1:n.-179C>T
XM_011531166.2:c.103C>T	XP_011529468.1:p.Gln35Ter
XM_024452383.1:c.103C>T	XP_024308151.1:p.Gln35Ter
XM_024452384.1:c.103C>T	XP_024308152.1:p.Gln35Ter
NM_001110792.2:c.418C>T MANE Select	NP_001104262.1:p.Gln140Ter
NM_001316337.2:c.103C>T	NP_001303266.1:p.Gln35Ter
NM_001369391.2:c.103C>T	NP_001356320.1:p.Gln35Ter
NM_001369392.2:c.103C>T	NP_001356321.1:p.Gln35Ter
NM_001369393.2:c.103C>T	NP_001356322.1:p.Gln35Ter
NM_001369394.1:c.103C>T	NP_001356323.1:p.Gln35Ter
NM_001369394.2:c.103C>T	NP_001356323.1:p.Gln35Ter
NM_001386137.1:c.-179C>T	NP_001373066.1:n.-179C>T
NM_001386138.1:c.-179C>T	NP_001373067.1:n.-179C>T
NM_001386139.1:c.-179C>T	NP_001373068.1:n.-179C>T
NM_004992.4:c.382C>T MANE Plus Clinical	NP_004983.1:p.Gln128Ter