Canonical Allele Identifier: CA415175225
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2683175
ClinVar RCV Id: RCV003482042
MyVariant Identifiers: chrX:g.153296875T>G (hg19) chrX:g.154031424T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031424T>G , CM000685.2:g.154031424T>G GRCh38
NC_000023.10:g.153296875T>G , CM000685.1:g.153296875T>G GRCh37
NC_000023.9:g.152950069T>G NCBI36
NG_007107.2:g.110704A>C
NG_007107.3:g.110680A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.404A>C MANE Plus Clinical ENSP00000301948.6:p.Lys135Thr
ENST00000453960.7:c.440A>C MANE Select ENSP00000395535.2:p.Lys147Thr
ENST00000637917.1:c.37A>C
ENST00000303391.10:c.404A>C ENSP00000301948.6:p.Lys135Thr
ENST00000369957.5:c.*458A>C ENSP00000358973.4:n.*458A>C
ENST00000407218.5:c.440A>C ENSP00000384865.2:p.Lys147Thr
ENST00000453960.6:c.440A>C ENSP00000395535.2:p.Lys147Thr
ENST00000486506.5:n.2752A>C
ENST00000611468.1:c.392A>C ENSP00000479736.1:p.Lys131Thr
ENST00000619732.4:c.404A>C ENSP00000480973.1:p.Lys135Thr
ENST00000622433.4:c.392A>C ENSP00000484470.1:p.Lys131Thr
ENST00000628176.2:c.404A>C ENSP00000486978.1:p.Lys135Thr
NM_001110792.1:c.440A>C NP_001104262.1:p.Lys147Thr
NM_001316337.1:c.125A>C NP_001303266.1:p.Lys42Thr
NM_004992.3:c.404A>C NP_004983.1:p.Lys135Thr
XM_005274681.3:c.404A>C XP_005274738.1:p.Lys135Thr
XM_005274682.3:c.125A>C XP_005274739.1:p.Lys42Thr
XM_005274683.3:c.125A>C XP_005274740.1:p.Lys42Thr
XM_006724819.2:c.-157A>C XP_006724882.1:n.-157A>C
XM_011531166.1:c.125A>C XP_011529468.1:p.Lys42Thr
XM_006724819.3:c.-157A>C XP_006724882.1:n.-157A>C
XM_011531166.2:c.125A>C XP_011529468.1:p.Lys42Thr
XM_024452383.1:c.125A>C XP_024308151.1:p.Lys42Thr
XM_024452384.1:c.125A>C XP_024308152.1:p.Lys42Thr
NM_001110792.2:c.440A>C MANE Select NP_001104262.1:p.Lys147Thr
NM_001316337.2:c.125A>C NP_001303266.1:p.Lys42Thr
NM_001369391.2:c.125A>C NP_001356320.1:p.Lys42Thr
NM_001369392.2:c.125A>C NP_001356321.1:p.Lys42Thr
NM_001369393.2:c.125A>C NP_001356322.1:p.Lys42Thr
NM_001369394.1:c.125A>C NP_001356323.1:p.Lys42Thr
NM_001369394.2:c.125A>C NP_001356323.1:p.Lys42Thr
NM_001386137.1:c.-157A>C NP_001373066.1:n.-157A>C
NM_001386138.1:c.-157A>C NP_001373067.1:n.-157A>C
NM_001386139.1:c.-157A>C NP_001373068.1:n.-157A>C
NM_004992.4:c.404A>C MANE Plus Clinical NP_004983.1:p.Lys135Thr
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