Canonical Allele Identifier: CA519705091

Gene: MECP2

Linked Data

• dbSNP Id: rs1272483711
• gnomAD v3: X-154032464-C-T
• gnomAD v4: X-154032464-C-T
• MyVariant Identifiers: chrX:g.153297915C>T (hg19) ; chrX:g.154032464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032464C>T , CM000685.2:g.154032464C>T	GRCh38
NC_000023.10:g.153297915C>T , CM000685.1:g.153297915C>T	GRCh37
NC_000023.9:g.152951109C>T	NCBI36
NG_007107.2:g.109664G>A
NG_007107.3:g.109640G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.120G>A MANE Plus Clinical	ENSP00000301948.6:p.Glu40=
ENST00000453960.7:c.156G>A MANE Select	ENSP00000395535.2:p.Glu52=
ENST00000630151.2:c.120G>A	ENSP00000486089.1:p.Glu40=
ENST00000676382.1:n.313G>A
ENST00000303391.10:c.120G>A	ENSP00000301948.6:p.Glu40=
ENST00000369957.5:c.*174G>A	ENSP00000358973.4:n.*174G>A
ENST00000407218.5:c.156G>A	ENSP00000384865.2:p.Glu52=
ENST00000415944.3:c.120G>A	ENSP00000416267.1:p.Glu40=
ENST00000453960.6:c.156G>A	ENSP00000395535.2:p.Glu52=
ENST00000460227.4:n.1269G>A
ENST00000463644.5:n.1059G>A
ENST00000481807.3:n.406G>A
ENST00000486506.5:n.2468G>A
ENST00000488293.4:n.1169G>A
ENST00000496908.5:n.251G>A
ENST00000611468.1:c.108G>A	ENSP00000479736.1:p.Glu36=
ENST00000619732.4:c.120G>A	ENSP00000480973.1:p.Glu40=
ENST00000622433.4:c.108G>A	ENSP00000484470.1:p.Glu36=
ENST00000625300.1:n.345G>A
ENST00000626422.2:n.830G>A
ENST00000628176.2:c.120G>A	ENSP00000486978.1:p.Glu40=
ENST00000630151.1:c.120G>A	ENSP00000486089.1:p.Glu40=
ENST00000631210.1:n.399G>A
NM_001110792.1:c.156G>A	NP_001104262.1:p.Glu52=
NM_001316337.1:c.-160G>A	NP_001303266.1:n.-160G>A
NM_004992.3:c.120G>A	NP_004983.1:p.Glu40=
XM_005274681.3:c.120G>A	XP_005274738.1:p.Glu40=
XM_005274682.3:c.-160G>A	XP_005274739.1:n.-160G>A
XM_005274683.3:c.-160G>A	XP_005274740.1:n.-160G>A
XM_011531166.1:c.-160G>A	XP_011529468.1:n.-160G>A
XM_006724819.3:c.-441G>A	XP_006724882.1:n.-441G>A
XM_011531166.2:c.-160G>A	XP_011529468.1:n.-160G>A
XM_024452383.1:c.-160G>A	XP_024308151.1:n.-160G>A
XM_024452384.1:c.-160G>A	XP_024308152.1:n.-160G>A
NM_001110792.2:c.156G>A MANE Select	NP_001104262.1:p.Glu52=
NM_001316337.2:c.-160G>A	NP_001303266.1:n.-160G>A
NM_001369391.2:c.-160G>A	NP_001356320.1:n.-160G>A
NM_001369392.2:c.-160G>A	NP_001356321.1:n.-160G>A
NM_001369393.2:c.-160G>A	NP_001356322.1:n.-160G>A
NM_001369394.1:c.-160G>A	NP_001356323.1:n.-160G>A
NM_001369394.2:c.-160G>A	NP_001356323.1:n.-160G>A
NM_001386137.1:c.-441G>A	NP_001373066.1:n.-441G>A
NM_001386138.1:c.-441G>A	NP_001373067.1:n.-441G>A
NM_001386139.1:c.-441G>A	NP_001373068.1:n.-441G>A
NM_004992.4:c.120G>A MANE Plus Clinical	NP_004983.1:p.Glu40=