Canonical Allele Identifier: CA270390
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143560
dbSNP Id: rs61748389

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031430C>A , CM000685.2:g.154031430C>A GRCh38
NC_000023.10:g.153296881C>A , CM000685.1:g.153296881C>A GRCh37
NC_000023.9:g.152950075C>A NCBI36
NG_007107.2:g.110698G>T
NG_007107.3:g.110674G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.398G>T MANE Plus Clinical ENSP00000301948.6:p.Arg133Leu
ENST00000453960.7:c.434G>T MANE Select ENSP00000395535.2:p.Arg145Leu
ENST00000637917.1:c.31G>T
ENST00000303391.10:c.398G>T ENSP00000301948.6:p.Arg133Leu
ENST00000369957.5:c.*452G>T ENSP00000358973.4:n.*452G>T
ENST00000407218.5:c.434G>T ENSP00000384865.2:p.Arg145Leu
ENST00000453960.6:c.434G>T ENSP00000395535.2:p.Arg145Leu
ENST00000486506.5:n.2746G>T
ENST00000611468.1:c.386G>T ENSP00000479736.1:p.Arg129Leu
ENST00000619732.4:c.398G>T ENSP00000480973.1:p.Arg133Leu
ENST00000622433.4:c.386G>T ENSP00000484470.1:p.Arg129Leu
ENST00000628176.2:c.398G>T ENSP00000486978.1:p.Arg133Leu
NM_001110792.1:c.434G>T NP_001104262.1:p.Arg145Leu
NM_001316337.1:c.119G>T NP_001303266.1:p.Arg40Leu
NM_004992.3:c.398G>T NP_004983.1:p.Arg133Leu
XM_005274681.3:c.398G>T XP_005274738.1:p.Arg133Leu
XM_005274682.3:c.119G>T XP_005274739.1:p.Arg40Leu
XM_005274683.3:c.119G>T XP_005274740.1:p.Arg40Leu
XM_006724819.2:c.-163G>T XP_006724882.1:n.-163G>T
XM_011531166.1:c.119G>T XP_011529468.1:p.Arg40Leu
XM_006724819.3:c.-163G>T XP_006724882.1:n.-163G>T
XM_011531166.2:c.119G>T XP_011529468.1:p.Arg40Leu
XM_024452383.1:c.119G>T XP_024308151.1:p.Arg40Leu
XM_024452384.1:c.119G>T XP_024308152.1:p.Arg40Leu
NM_001110792.2:c.434G>T MANE Select NP_001104262.1:p.Arg145Leu
NM_001316337.2:c.119G>T NP_001303266.1:p.Arg40Leu
NM_001369391.2:c.119G>T NP_001356320.1:p.Arg40Leu
NM_001369392.2:c.119G>T NP_001356321.1:p.Arg40Leu
NM_001369393.2:c.119G>T NP_001356322.1:p.Arg40Leu
NM_001369394.1:c.119G>T NP_001356323.1:p.Arg40Leu
NM_001369394.2:c.119G>T NP_001356323.1:p.Arg40Leu
NM_001386137.1:c.-163G>T NP_001373066.1:n.-163G>T
NM_001386138.1:c.-163G>T NP_001373067.1:n.-163G>T
NM_001386139.1:c.-163G>T NP_001373068.1:n.-163G>T
NM_004992.4:c.398G>T MANE Plus Clinical NP_004983.1:p.Arg133Leu