Canonical Allele Identifier: CA270431
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143583
ClinVar RCV Id: RCV000133121 RCV001267441
dbSNP Id: rs61748407
MyVariant Identifiers: chrX:g.153296812T>C (hg19) chrX:g.154031361T>C (hg38)
ERepo: CA270431/MONDO:0010726/016
PubMed: PMID:11241840 PMID:11309679
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031361T>C , CM000685.2:g.154031361T>C GRCh38
NC_000023.10:g.153296812T>C , CM000685.1:g.153296812T>C GRCh37
NC_000023.9:g.152950006T>C NCBI36
NG_007107.2:g.110767A>G
NG_007107.3:g.110743A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.467A>G MANE Plus Clinical ENSP00000301948.6:p.Asp156Gly
ENST00000453960.7:c.503A>G MANE Select ENSP00000395535.2:p.Asp168Gly
ENST00000637917.1:c.65+35A>G
ENST00000303391.10:c.467A>G ENSP00000301948.6:p.Asp156Gly
ENST00000407218.5:c.468+35A>G ENSP00000384865.2:n.468+35A>G
ENST00000453960.6:c.503A>G ENSP00000395535.2:p.Asp168Gly
ENST00000486506.5:n.2815A>G
ENST00000611468.1:c.455A>G ENSP00000479736.1:p.Asp152Gly
ENST00000619732.4:c.467A>G ENSP00000480973.1:p.Asp156Gly
ENST00000622433.4:c.455A>G ENSP00000484470.1:p.Asp152Gly
ENST00000628176.2:c.432+35A>G ENSP00000486978.1:n.432+35A>G
NM_001110792.1:c.503A>G NP_001104262.1:p.Asp168Gly
NM_001316337.1:c.188A>G NP_001303266.1:p.Asp63Gly
NM_004992.3:c.467A>G NP_004983.1:p.Asp156Gly
XM_005274681.3:c.467A>G XP_005274738.1:p.Asp156Gly
XM_005274682.3:c.188A>G XP_005274739.1:p.Asp63Gly
XM_005274683.3:c.188A>G XP_005274740.1:p.Asp63Gly
XM_006724819.2:c.-129+35A>G XP_006724882.1:n.-129+35A>G
XM_011531166.1:c.188A>G XP_011529468.1:p.Asp63Gly
XM_006724819.3:c.-129+35A>G XP_006724882.1:n.-129+35A>G
XM_011531166.2:c.188A>G XP_011529468.1:p.Asp63Gly
XM_024452383.1:c.188A>G XP_024308151.1:p.Asp63Gly
XM_024452384.1:c.188A>G XP_024308152.1:p.Asp63Gly
NM_001110792.2:c.503A>G MANE Select NP_001104262.1:p.Asp168Gly
NM_001316337.2:c.188A>G NP_001303266.1:p.Asp63Gly
NM_001369391.2:c.188A>G NP_001356320.1:p.Asp63Gly
NM_001369392.2:c.188A>G NP_001356321.1:p.Asp63Gly
NM_001369393.2:c.188A>G NP_001356322.1:p.Asp63Gly
NM_001369394.1:c.188A>G NP_001356323.1:p.Asp63Gly
NM_001369394.2:c.188A>G NP_001356323.1:p.Asp63Gly
NM_001386137.1:c.-129+35A>G NP_001373066.1:n.-129+35A>G
NM_001386138.1:c.-129+35A>G NP_001373067.1:n.-129+35A>G
NM_001386139.1:c.-129+35A>G NP_001373068.1:n.-129+35A>G
NM_004992.4:c.467A>G MANE Plus Clinical NP_004983.1:p.Asp156Gly
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