Canonical Allele Identifier: CA415173958
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 804125
ClinVar RCV Id: RCV000991000 RCV003128734
dbSNP Id: rs61748427
gnomAD v4: X-154031311-G-T
MyVariant Identifiers: chrX:g.153296762G>T (hg19) chrX:g.154031311G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031311G>T , CM000685.2:g.154031311G>T GRCh38
NC_000023.10:g.153296762G>T , CM000685.1:g.153296762G>T GRCh37
NC_000023.9:g.152949956G>T NCBI36
NG_007107.2:g.110817C>A
NG_007107.3:g.110793C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.517C>A MANE Plus Clinical ENSP00000301948.6:p.Pro173Thr
ENST00000453960.7:c.553C>A MANE Select ENSP00000395535.2:p.Pro185Thr
ENST00000637917.1:c.65+85C>A
ENST00000303391.10:c.517C>A ENSP00000301948.6:p.Pro173Thr
ENST00000407218.5:c.469-25C>A ENSP00000384865.2:n.469-25C>A
ENST00000453960.6:c.553C>A ENSP00000395535.2:p.Pro185Thr
ENST00000486506.5:n.2865C>A
ENST00000611468.1:c.503C>A ENSP00000479736.1:p.Thr168Asn
ENST00000619732.4:c.517C>A ENSP00000480973.1:p.Pro173Thr
ENST00000622433.4:c.505C>A ENSP00000484470.1:p.Pro169Thr
ENST00000628176.2:c.433-25C>A ENSP00000486978.1:n.433-25C>A
NM_001110792.1:c.553C>A NP_001104262.1:p.Pro185Thr
NM_001316337.1:c.238C>A NP_001303266.1:p.Pro80Thr
NM_004992.3:c.517C>A NP_004983.1:p.Pro173Thr
XM_005274681.3:c.517C>A XP_005274738.1:p.Pro173Thr
XM_005274682.3:c.238C>A XP_005274739.1:p.Pro80Thr
XM_005274683.3:c.238C>A XP_005274740.1:p.Pro80Thr
XM_006724819.2:c.-128-25C>A XP_006724882.1:n.-128-25C>A
XM_011531166.1:c.238C>A XP_011529468.1:p.Pro80Thr
XM_006724819.3:c.-128-25C>A XP_006724882.1:n.-128-25C>A
XM_011531166.2:c.238C>A XP_011529468.1:p.Pro80Thr
XM_024452383.1:c.238C>A XP_024308151.1:p.Pro80Thr
XM_024452384.1:c.238C>A XP_024308152.1:p.Pro80Thr
NM_001110792.2:c.553C>A MANE Select NP_001104262.1:p.Pro185Thr
NM_001316337.2:c.238C>A NP_001303266.1:p.Pro80Thr
NM_001369391.2:c.238C>A NP_001356320.1:p.Pro80Thr
NM_001369392.2:c.238C>A NP_001356321.1:p.Pro80Thr
NM_001369393.2:c.238C>A NP_001356322.1:p.Pro80Thr
NM_001369394.1:c.238C>A NP_001356323.1:p.Pro80Thr
NM_001369394.2:c.238C>A NP_001356323.1:p.Pro80Thr
NM_001386137.1:c.-128-25C>A NP_001373066.1:n.-128-25C>A
NM_001386138.1:c.-128-25C>A NP_001373067.1:n.-128-25C>A
NM_001386139.1:c.-128-25C>A NP_001373068.1:n.-128-25C>A
NM_004992.4:c.517C>A MANE Plus Clinical NP_004983.1:p.Pro173Thr
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