Canonical Allele Identifier: CA2466571582
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032348G= , CM000685.2:g.154032348G= GRCh38
NC_000023.10:g.153297799G= , CM000685.1:g.153297799G= GRCh37
NC_000023.9:g.152950993G= NCBI36
NG_007107.2:g.109780C=
NG_007107.3:g.109756C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.236C= MANE Plus Clinical ENSP00000301948.6:p.Ala79=
ENST00000453960.7:c.272C= MANE Select ENSP00000395535.2:p.Ala91=
ENST00000303391.10:c.236C= ENSP00000301948.6:p.Ala79=
ENST00000369957.5:c.*290C= ENSP00000358973.4:n.*290C=
ENST00000407218.5:c.272C= ENSP00000384865.2:p.Ala91=
ENST00000453960.6:c.272C= ENSP00000395535.2:p.Ala91=
ENST00000486506.5:n.2584C=
ENST00000611468.1:c.224C= ENSP00000479736.1:p.Ala75=
ENST00000619732.4:c.236C= ENSP00000480973.1:p.Ala79=
ENST00000622433.4:c.224C= ENSP00000484470.1:p.Ala75=
ENST00000628176.2:c.236C= ENSP00000486978.1:p.Ala79=
NM_001110792.1:c.272C= NP_001104262.1:p.Ala91=
NM_001316337.1:c.-44C= NP_001303266.1:n.-44C=
NM_004992.3:c.236C= NP_004983.1:p.Ala79=
XM_005274681.3:c.236C= XP_005274738.1:p.Ala79=
XM_005274682.3:c.-44C= XP_005274739.1:n.-44C=
XM_005274683.3:c.-44C= XP_005274740.1:n.-44C=
XM_011531166.1:c.-44C= XP_011529468.1:n.-44C=
XM_006724819.3:c.-325C= XP_006724882.1:n.-325C=
XM_011531166.2:c.-44C= XP_011529468.1:n.-44C=
XM_024452383.1:c.-44C= XP_024308151.1:n.-44C=
XM_024452384.1:c.-44C= XP_024308152.1:n.-44C=
NM_001110792.2:c.272C= MANE Select NP_001104262.1:p.Ala91=
NM_001316337.2:c.-44C= NP_001303266.1:n.-44C=
NM_001369391.2:c.-44C= NP_001356320.1:n.-44C=
NM_001369392.2:c.-44C= NP_001356321.1:n.-44C=
NM_001369393.2:c.-44C= NP_001356322.1:n.-44C=
NM_001369394.1:c.-44C= NP_001356323.1:n.-44C=
NM_001369394.2:c.-44C= NP_001356323.1:n.-44C=
NM_001386137.1:c.-325C= NP_001373066.1:n.-325C=
NM_001386138.1:c.-325C= NP_001373067.1:n.-325C=
NM_001386139.1:c.-325C= NP_001373068.1:n.-325C=
NM_004992.4:c.236C= MANE Plus Clinical NP_004983.1:p.Ala79=