Canonical Allele Identifier: CA10587387

Gene: MECP2

Linked Data

• ClinVar Variation Id: 259602
• ClinVar RCV Id: RCV000246535
• dbSNP Id: rs372500343
• MyVariant Identifiers: chrX:g.153297981G>T (hg19) ; chrX:g.154032530G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032530G>T , CM000685.2:g.154032530G>T	GRCh38
NC_000023.10:g.153297981G>T , CM000685.1:g.153297981G>T	GRCh37
NC_000023.9:g.152951175G>T	NCBI36
NG_007107.2:g.109598C>A
NG_007107.3:g.109574C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700484.1:n.162C>A
ENST00000303391.11:c.54C>A MANE Plus Clinical	ENSP00000301948.6:p.Leu18=
ENST00000453960.7:c.90C>A MANE Select	ENSP00000395535.2:p.Leu30=
ENST00000611468.2:n.302C>A
ENST00000630151.2:c.54C>A	ENSP00000486089.1:p.Leu18=
ENST00000637533.1:n.85C>A
ENST00000675526.1:c.*447C>A	ENSP00000501710.1:n.*447C>A
ENST00000676382.1:n.247C>A
ENST00000303391.10:c.54C>A	ENSP00000301948.6:p.Leu18=
ENST00000369957.5:c.*108C>A	ENSP00000358973.4:n.*108C>A
ENST00000407218.5:c.90C>A	ENSP00000384865.2:p.Leu30=
ENST00000415944.3:c.54C>A	ENSP00000416267.1:p.Leu18=
ENST00000453960.6:c.90C>A	ENSP00000395535.2:p.Leu30=
ENST00000460227.4:n.1203C>A
ENST00000463644.5:n.993C>A
ENST00000481807.3:n.340C>A
ENST00000486506.5:n.2402C>A
ENST00000488293.4:n.1103C>A
ENST00000496908.5:n.185C>A
ENST00000611468.1:c.42C>A	ENSP00000479736.1:p.Leu14=
ENST00000619732.4:c.54C>A	ENSP00000480973.1:p.Leu18=
ENST00000622433.4:c.42C>A	ENSP00000484470.1:p.Leu14=
ENST00000625300.1:n.279C>A
ENST00000626422.2:n.764C>A
ENST00000628176.2:c.54C>A	ENSP00000486978.1:p.Leu18=
ENST00000630151.1:c.54C>A	ENSP00000486089.1:p.Leu18=
ENST00000631210.1:n.333C>A
NM_001110792.1:c.90C>A	NP_001104262.1:p.Leu30=
NM_001316337.1:c.-226C>A	NP_001303266.1:n.-226C>A
NM_004992.3:c.54C>A	NP_004983.1:p.Leu18=
XM_005274681.3:c.54C>A	XP_005274738.1:p.Leu18=
XM_005274682.3:c.-226C>A	XP_005274739.1:n.-226C>A
XM_005274683.3:c.-226C>A	XP_005274740.1:n.-226C>A
XM_011531166.1:c.-226C>A	XP_011529468.1:n.-226C>A
XM_006724819.3:c.-507C>A	XP_006724882.1:n.-507C>A
XM_011531166.2:c.-226C>A	XP_011529468.1:n.-226C>A
XM_024452383.1:c.-226C>A	XP_024308151.1:n.-226C>A
XM_024452384.1:c.-226C>A	XP_024308152.1:n.-226C>A
NM_001110792.2:c.90C>A MANE Select	NP_001104262.1:p.Leu30=
NM_001316337.2:c.-226C>A	NP_001303266.1:n.-226C>A
NM_001369391.2:c.-226C>A	NP_001356320.1:n.-226C>A
NM_001369392.2:c.-226C>A	NP_001356321.1:n.-226C>A
NM_001369393.2:c.-226C>A	NP_001356322.1:n.-226C>A
NM_001369394.1:c.-226C>A	NP_001356323.1:n.-226C>A
NM_001369394.2:c.-226C>A	NP_001356323.1:n.-226C>A
NM_001386137.1:c.-507C>A	NP_001373066.1:n.-507C>A
NM_001386138.1:c.-507C>A	NP_001373067.1:n.-507C>A
NM_001386139.1:c.-507C>A	NP_001373068.1:n.-507C>A
NM_004992.4:c.54C>A MANE Plus Clinical	NP_004983.1:p.Leu18=