Canonical Allele Identifier: CA519704667

Gene: MECP2

Linked Data

• dbSNP Id: rs782531747
• gnomAD v2: X-153295932-C-T
• gnomAD v4: X-154030481-C-T
• MyVariant Identifiers: chrX:g.153295932C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030481C>T , CM000685.2:g.154030481C>T	GRCh38
NC_000023.10:g.153295932C>T , CM000685.1:g.153295932C>T	GRCh37
NC_000023.9:g.152949126C>T	NCBI36
NG_007107.2:g.111647G>A
NG_007107.3:g.111623G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1347G>A MANE Plus Clinical	ENSP00000301948.6:p.Lys449=
ENST00000453960.7:c.1383G>A MANE Select	ENSP00000395535.2:p.Lys461=
ENST00000303391.10:c.1347G>A	ENSP00000301948.6:p.Lys449=
ENST00000453960.6:c.1383G>A	ENSP00000395535.2:p.Lys461=
ENST00000619732.4:c.1347G>A	ENSP00000480973.1:p.Lys449=
ENST00000628176.2:c.*719G>A	ENSP00000486978.1:n.*719G>A
NM_001110792.1:c.1383G>A	NP_001104262.1:p.Lys461=
NM_001316337.1:c.1068G>A	NP_001303266.1:p.Lys356=
NM_004992.3:c.1347G>A	NP_004983.1:p.Lys449=
XM_005274681.3:c.1347G>A	XP_005274738.1:p.Lys449=
XM_005274682.3:c.1068G>A	XP_005274739.1:p.Lys356=
XM_005274683.3:c.1068G>A	XP_005274740.1:p.Lys356=
XM_006724819.2:c.678G>A	XP_006724882.1:p.Lys226=
XM_011531166.1:c.1068G>A	XP_011529468.1:p.Lys356=
XM_006724819.3:c.678G>A	XP_006724882.1:p.Lys226=
XM_011531166.2:c.1068G>A	XP_011529468.1:p.Lys356=
XM_024452383.1:c.1068G>A	XP_024308151.1:p.Lys356=
XM_024452384.1:c.1068G>A	XP_024308152.1:p.Lys356=
NM_001110792.2:c.1383G>A MANE Select	NP_001104262.1:p.Lys461=
NM_001316337.2:c.1068G>A	NP_001303266.1:p.Lys356=
NM_001369391.2:c.1068G>A	NP_001356320.1:p.Lys356=
NM_001369392.2:c.1068G>A	NP_001356321.1:p.Lys356=
NM_001369393.2:c.1068G>A	NP_001356322.1:p.Lys356=
NM_001369394.1:c.1068G>A	NP_001356323.1:p.Lys356=
NM_001369394.2:c.1068G>A	NP_001356323.1:p.Lys356=
NM_001386137.1:c.678G>A	NP_001373066.1:p.Lys226=
NM_001386138.1:c.678G>A	NP_001373067.1:p.Lys226=
NM_001386139.1:c.678G>A	NP_001373068.1:p.Lys226=
NM_004992.4:c.1347G>A MANE Plus Clinical	NP_004983.1:p.Lys449=