Canonical Allele Identifier: CA270404
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143566
ClinVar RCV Id: RCV000133100
dbSNP Id: rs267608475

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031415A>T , CM000685.2:g.154031415A>T GRCh38
NC_000023.10:g.153296866A>T , CM000685.1:g.153296866A>T GRCh37
NC_000023.9:g.152950060A>T NCBI36
NG_007107.2:g.110713T>A
NG_007107.3:g.110689T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.413T>A MANE Plus Clinical ENSP00000301948.6:p.Leu138Ter
ENST00000453960.7:c.449T>A MANE Select ENSP00000395535.2:p.Leu150Ter
ENST00000637917.1:c.46T>A
ENST00000303391.10:c.413T>A ENSP00000301948.6:p.Leu138Ter
ENST00000369957.5:c.*467T>A ENSP00000358973.4:n.*467T>A
ENST00000407218.5:c.449T>A ENSP00000384865.2:p.Leu150Ter
ENST00000453960.6:c.449T>A ENSP00000395535.2:p.Leu150Ter
ENST00000486506.5:n.2761T>A
ENST00000611468.1:c.401T>A ENSP00000479736.1:p.Leu134Ter
ENST00000619732.4:c.413T>A ENSP00000480973.1:p.Leu138Ter
ENST00000622433.4:c.401T>A ENSP00000484470.1:p.Leu134Ter
ENST00000628176.2:c.413T>A ENSP00000486978.1:p.Leu138Ter
NM_001110792.1:c.449T>A NP_001104262.1:p.Leu150Ter
NM_001316337.1:c.134T>A NP_001303266.1:p.Leu45Ter
NM_004992.3:c.413T>A NP_004983.1:p.Leu138Ter
XM_005274681.3:c.413T>A XP_005274738.1:p.Leu138Ter
XM_005274682.3:c.134T>A XP_005274739.1:p.Leu45Ter
XM_005274683.3:c.134T>A XP_005274740.1:p.Leu45Ter
XM_006724819.2:c.-148T>A XP_006724882.1:n.-148T>A
XM_011531166.1:c.134T>A XP_011529468.1:p.Leu45Ter
XM_006724819.3:c.-148T>A XP_006724882.1:n.-148T>A
XM_011531166.2:c.134T>A XP_011529468.1:p.Leu45Ter
XM_024452383.1:c.134T>A XP_024308151.1:p.Leu45Ter
XM_024452384.1:c.134T>A XP_024308152.1:p.Leu45Ter
NM_001110792.2:c.449T>A MANE Select NP_001104262.1:p.Leu150Ter
NM_001316337.2:c.134T>A NP_001303266.1:p.Leu45Ter
NM_001369391.2:c.134T>A NP_001356320.1:p.Leu45Ter
NM_001369392.2:c.134T>A NP_001356321.1:p.Leu45Ter
NM_001369393.2:c.134T>A NP_001356322.1:p.Leu45Ter
NM_001369394.1:c.134T>A NP_001356323.1:p.Leu45Ter
NM_001369394.2:c.134T>A NP_001356323.1:p.Leu45Ter
NM_001386137.1:c.-148T>A NP_001373066.1:n.-148T>A
NM_001386138.1:c.-148T>A NP_001373067.1:n.-148T>A
NM_001386139.1:c.-148T>A NP_001373068.1:n.-148T>A
NM_004992.4:c.413T>A MANE Plus Clinical NP_004983.1:p.Leu138Ter