Canonical Allele Identifier: CA415301018

Gene: MECP2

Linked Data

• gnomAD v4: X-154097613-T-A
• MyVariant Identifiers: chrX:g.153363070T>A (hg19) ; chrX:g.154097613T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097613T>A , CM000685.2:g.154097613T>A	GRCh38
NC_000023.10:g.153363070T>A , CM000685.1:g.153363070T>A	GRCh37
NC_000023.9:g.153016264T>A	NCBI36
NG_007107.2:g.44509A>T
NG_007107.3:g.44491A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.13A>T
ENST00000303391.11:c.-108A>T MANE Plus Clinical	ENSP00000301948.6:n.-108A>T
ENST00000453960.7:c.53A>T MANE Select	ENSP00000395535.2:p.Glu18Val
ENST00000676382.1:n.13A>T
ENST00000303391.10:c.-108A>T	ENSP00000301948.6:n.-108A>T
ENST00000369957.5:c.-108A>T	ENSP00000358973.4:n.-108A>T
ENST00000407218.5:c.53A>T	ENSP00000384865.2:p.Glu18Val
ENST00000453960.6:c.53A>T	ENSP00000395535.2:p.Glu18Val
ENST00000619732.4:c.-108A>T	ENSP00000480973.1:n.-108A>T
ENST00000627864.1:n.68A>T
ENST00000628176.2:c.-108A>T	ENSP00000486978.1:n.-108A>T
ENST00000631210.1:n.305+7168A>T
NM_001110792.1:c.53A>T	NP_001104262.1:p.Glu18Val
NM_001316337.1:c.-555A>T	NP_001303266.1:n.-555A>T
NM_004992.3:c.-108A>T	NP_004983.1:n.-108A>T
XM_005274682.3:c.-499A>T	XP_005274739.1:n.-499A>T
NM_001110792.2:c.53A>T MANE Select	NP_001104262.1:p.Glu18Val
NM_001316337.2:c.-555A>T	NP_001303266.1:n.-555A>T
NM_001369391.2:c.-850A>T	NP_001356320.1:n.-850A>T
NM_001369392.2:c.-499A>T	NP_001356321.1:n.-499A>T
NM_001369393.2:c.-375A>T	NP_001356322.1:n.-375A>T
NM_001386137.1:c.-780A>T	NP_001373066.1:n.-780A>T
NM_001386138.1:c.-668A>T	NP_001373067.1:n.-668A>T
NM_001386139.1:c.-544A>T	NP_001373068.1:n.-544A>T
NM_004992.4:c.-108A>T MANE Plus Clinical	NP_004983.1:n.-108A>T