Canonical Allele Identifier: CA415301590

Gene: MECP2

Linked Data

• ClinVar Variation Id: 496280
• ClinVar RCV Id: RCV000586039 ; RCV001860137
• dbSNP Id: rs1240023402
• gnomAD v2: X-153363110-C-T
• gnomAD v3: X-154097653-C-T
• gnomAD v4: X-154097653-C-T
• MyVariant Identifiers: chrX:g.153363110C>T (hg19) ; chrX:g.154097653C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097653C>T , CM000685.2:g.154097653C>T	GRCh38
NC_000023.10:g.153363110C>T , CM000685.1:g.153363110C>T	GRCh37
NC_000023.9:g.153016304C>T	NCBI36
NG_007107.2:g.44469G>A
NG_007107.3:g.44451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-148G>A MANE Plus Clinical	ENSP00000301948.6:n.-148G>A
ENST00000453960.7:c.13G>A MANE Select	ENSP00000395535.2:p.Ala5Thr
ENST00000303391.10:c.-148G>A	ENSP00000301948.6:n.-148G>A
ENST00000369957.5:c.-148G>A	ENSP00000358973.4:n.-148G>A
ENST00000407218.5:c.13G>A	ENSP00000384865.2:p.Ala5Thr
ENST00000453960.6:c.13G>A	ENSP00000395535.2:p.Ala5Thr
ENST00000619732.4:c.-148G>A	ENSP00000480973.1:n.-148G>A
ENST00000627864.1:n.28G>A
ENST00000628176.2:c.-148G>A	ENSP00000486978.1:n.-148G>A
ENST00000631210.1:n.305+7128G>A
NM_001110792.1:c.13G>A	NP_001104262.1:p.Ala5Thr
NM_001316337.1:c.-595G>A	NP_001303266.1:n.-595G>A
NM_004992.3:c.-148G>A	NP_004983.1:n.-148G>A
XM_005274682.3:c.-539G>A	XP_005274739.1:n.-539G>A
NM_001110792.2:c.13G>A MANE Select	NP_001104262.1:p.Ala5Thr
NM_001316337.2:c.-595G>A	NP_001303266.1:n.-595G>A
NM_001369391.2:c.-890G>A	NP_001356320.1:n.-890G>A
NM_001369392.2:c.-539G>A	NP_001356321.1:n.-539G>A
NM_001369393.2:c.-415G>A	NP_001356322.1:n.-415G>A
NM_001386137.1:c.-820G>A	NP_001373066.1:n.-820G>A
NM_001386138.1:c.-708G>A	NP_001373067.1:n.-708G>A
NM_001386139.1:c.-584G>A	NP_001373068.1:n.-584G>A
NM_004992.4:c.-148G>A MANE Plus Clinical	NP_004983.1:n.-148G>A