Canonical Allele Identifier: CA10558584

Gene: MECP2

Linked Data

• ClinVar Variation Id: 1923631
• ClinVar RCV Id: RCV002604799 ; RCV003230754
• dbSNP Id: rs373329231
• ExAC: X:153296684 G / T
• gnomAD v2: X-153296684-G-T
• gnomAD v4: X-154031233-G-T
• MyVariant Identifiers: chrX:g.153296684G>T (hg19) ; chrX:g.154031233G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031233G>T , CM000685.2:g.154031233G>T	GRCh38
NC_000023.10:g.153296684G>T , CM000685.1:g.153296684G>T	GRCh37
NC_000023.9:g.152949878G>T	NCBI36
NG_007107.2:g.110895C>A
NG_007107.3:g.110871C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.595C>A MANE Plus Clinical	ENSP00000301948.6:p.Pro199Thr
ENST00000453960.7:c.631C>A MANE Select	ENSP00000395535.2:p.Pro211Thr
ENST00000637917.1:c.65+163C>A
ENST00000303391.10:c.595C>A	ENSP00000301948.6:p.Pro199Thr
ENST00000407218.5:c.522C>A	ENSP00000384865.2:p.Asp174Glu
ENST00000453960.6:c.631C>A	ENSP00000395535.2:p.Pro211Thr
ENST00000619732.4:c.595C>A	ENSP00000480973.1:p.Pro199Thr
ENST00000622433.4:c.583C>A	ENSP00000484470.1:p.Pro195Thr
ENST00000628176.2:c.486C>A	ENSP00000486978.1:p.Asp162Glu
NM_001110792.1:c.631C>A	NP_001104262.1:p.Pro211Thr
NM_001316337.1:c.316C>A	NP_001303266.1:p.Pro106Thr
NM_004992.3:c.595C>A	NP_004983.1:p.Pro199Thr
XM_005274681.3:c.595C>A	XP_005274738.1:p.Pro199Thr
XM_005274682.3:c.316C>A	XP_005274739.1:p.Pro106Thr
XM_005274683.3:c.316C>A	XP_005274740.1:p.Pro106Thr
XM_006724819.2:c.-75C>A	XP_006724882.1:n.-75C>A
XM_011531166.1:c.316C>A	XP_011529468.1:p.Pro106Thr
XM_006724819.3:c.-75C>A	XP_006724882.1:n.-75C>A
XM_011531166.2:c.316C>A	XP_011529468.1:p.Pro106Thr
XM_024452383.1:c.316C>A	XP_024308151.1:p.Pro106Thr
XM_024452384.1:c.316C>A	XP_024308152.1:p.Pro106Thr
NM_001110792.2:c.631C>A MANE Select	NP_001104262.1:p.Pro211Thr
NM_001316337.2:c.316C>A	NP_001303266.1:p.Pro106Thr
NM_001369391.2:c.316C>A	NP_001356320.1:p.Pro106Thr
NM_001369392.2:c.316C>A	NP_001356321.1:p.Pro106Thr
NM_001369393.2:c.316C>A	NP_001356322.1:p.Pro106Thr
NM_001369394.1:c.316C>A	NP_001356323.1:p.Pro106Thr
NM_001369394.2:c.316C>A	NP_001356323.1:p.Pro106Thr
NM_001386137.1:c.-75C>A	NP_001373066.1:n.-75C>A
NM_001386138.1:c.-75C>A	NP_001373067.1:n.-75C>A
NM_001386139.1:c.-75C>A	NP_001373068.1:n.-75C>A
NM_004992.4:c.595C>A MANE Plus Clinical	NP_004983.1:p.Pro199Thr