Canonical Allele Identifier: CA415301481

Gene: MECP2

Linked Data

• gnomAD v4: X-154097644-C-T
• MyVariant Identifiers: chrX:g.153363101C>T (hg19) ; chrX:g.154097644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097644C>T , CM000685.2:g.154097644C>T	GRCh38
NC_000023.10:g.153363101C>T , CM000685.1:g.153363101C>T	GRCh37
NC_000023.9:g.153016295C>T	NCBI36
NG_007107.2:g.44478G>A
NG_007107.3:g.44460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-139G>A MANE Plus Clinical	ENSP00000301948.6:n.-139G>A
ENST00000453960.7:c.22G>A MANE Select	ENSP00000395535.2:p.Ala8Thr
ENST00000303391.10:c.-139G>A	ENSP00000301948.6:n.-139G>A
ENST00000369957.5:c.-139G>A	ENSP00000358973.4:n.-139G>A
ENST00000407218.5:c.22G>A	ENSP00000384865.2:p.Ala8Thr
ENST00000453960.6:c.22G>A	ENSP00000395535.2:p.Ala8Thr
ENST00000619732.4:c.-139G>A	ENSP00000480973.1:n.-139G>A
ENST00000627864.1:n.37G>A
ENST00000628176.2:c.-139G>A	ENSP00000486978.1:n.-139G>A
ENST00000631210.1:n.305+7137G>A
NM_001110792.1:c.22G>A	NP_001104262.1:p.Ala8Thr
NM_001316337.1:c.-586G>A	NP_001303266.1:n.-586G>A
NM_004992.3:c.-139G>A	NP_004983.1:n.-139G>A
XM_005274682.3:c.-530G>A	XP_005274739.1:n.-530G>A
NM_001110792.2:c.22G>A MANE Select	NP_001104262.1:p.Ala8Thr
NM_001316337.2:c.-586G>A	NP_001303266.1:n.-586G>A
NM_001369391.2:c.-881G>A	NP_001356320.1:n.-881G>A
NM_001369392.2:c.-530G>A	NP_001356321.1:n.-530G>A
NM_001369393.2:c.-406G>A	NP_001356322.1:n.-406G>A
NM_001386137.1:c.-811G>A	NP_001373066.1:n.-811G>A
NM_001386138.1:c.-699G>A	NP_001373067.1:n.-699G>A
NM_001386139.1:c.-575G>A	NP_001373068.1:n.-575G>A
NM_004992.4:c.-139G>A MANE Plus Clinical	NP_004983.1:n.-139G>A