Canonical Allele Identifier: CA2466570940
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031286G= , CM000685.2:g.154031286G= GRCh38
NC_000023.10:g.153296737G= , CM000685.1:g.153296737G= GRCh37
NC_000023.9:g.152949931G= NCBI36
NG_007107.2:g.110842C=
NG_007107.3:g.110818C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.542C= MANE Plus Clinical ENSP00000301948.6:p.Ala181=
ENST00000453960.7:c.578C= MANE Select ENSP00000395535.2:p.Ala193=
ENST00000637917.1:c.65+110C=
ENST00000303391.10:c.542C= ENSP00000301948.6:p.Ala181=
ENST00000407218.5:c.469C= ENSP00000384865.2:p.Leu157=
ENST00000453960.6:c.578C= ENSP00000395535.2:p.Ala193=
ENST00000486506.5:n.2890C=
ENST00000619732.4:c.542C= ENSP00000480973.1:p.Ala181=
ENST00000622433.4:c.530C= ENSP00000484470.1:p.Ala177=
ENST00000628176.2:c.433C= ENSP00000486978.1:p.Leu145=
NM_001110792.1:c.578C= NP_001104262.1:p.Ala193=
NM_001316337.1:c.263C= NP_001303266.1:p.Ala88=
NM_004992.3:c.542C= NP_004983.1:p.Ala181=
XM_005274681.3:c.542C= XP_005274738.1:p.Ala181=
XM_005274682.3:c.263C= XP_005274739.1:p.Ala88=
XM_005274683.3:c.263C= XP_005274740.1:p.Ala88=
XM_006724819.2:c.-128C= XP_006724882.1:n.-128C=
XM_011531166.1:c.263C= XP_011529468.1:p.Ala88=
XM_006724819.3:c.-128C= XP_006724882.1:n.-128C=
XM_011531166.2:c.263C= XP_011529468.1:p.Ala88=
XM_024452383.1:c.263C= XP_024308151.1:p.Ala88=
XM_024452384.1:c.263C= XP_024308152.1:p.Ala88=
NM_001110792.2:c.578C= MANE Select NP_001104262.1:p.Ala193=
NM_001316337.2:c.263C= NP_001303266.1:p.Ala88=
NM_001369391.2:c.263C= NP_001356320.1:p.Ala88=
NM_001369392.2:c.263C= NP_001356321.1:p.Ala88=
NM_001369393.2:c.263C= NP_001356322.1:p.Ala88=
NM_001369394.1:c.263C= NP_001356323.1:p.Ala88=
NM_001369394.2:c.263C= NP_001356323.1:p.Ala88=
NM_001386137.1:c.-128C= NP_001373066.1:n.-128C=
NM_001386138.1:c.-128C= NP_001373067.1:n.-128C=
NM_001386139.1:c.-128C= NP_001373068.1:n.-128C=
NM_004992.4:c.542C= MANE Plus Clinical NP_004983.1:p.Ala181=