Canonical Allele Identifier: CA256089

Gene: MECP2

Linked Data

• ClinVar Variation Id: 11814
• ClinVar RCV Id: RCV000012585 ; RCV000255874 ; RCV000552837 ; RCV001000318 ; RCV001195924 ; RCV002247329 ; RCV002311513 ; RCV003224092
• dbSNP Id: rs28934907
• COSMIC: COSM4108018
• MyVariant Identifiers: chrX:g.153297719G>A (hg19) ; chrX:g.154032268G>A (hg38)
• PubMed: PMID:10508514 ; PMID:10577905 ; PMID:10745042 ; PMID:10814718 ; PMID:10852707 ; PMID:10991688 ; PMID:10991689 ; PMID:11055898 ; PMID:11106359 ; PMID:11214906 ; PMID:11238684 ; PMID:11241840 ; PMID:11245712 ; PMID:11269512 ; PMID:11309679 ; PMID:11313756 ; PMID:11402105 ; PMID:11469283 ; PMID:11738864 ; PMID:11738883 ; PMID:11738885 ; PMID:11960578 ; PMID:12075485 ; PMID:12180070 ; PMID:12325033 ; PMID:15057977 ; PMID:15389714 ; PMID:15737703 ; PMID:16473305 ; PMID:17089071 ; PMID:17387578 ; PMID:18174559 ; PMID:18337588 ; PMID:19652677 ; PMID:19722030 ; PMID:20098342 ; PMID:21160487 ; PMID:21954873 ; PMID:21982064 ; PMID:22476991 ; PMID:23262346 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032268G>A , CM000685.2:g.154032268G>A	GRCh38
NC_000023.10:g.153297719G>A , CM000685.1:g.153297719G>A	GRCh37
NC_000023.9:g.152950913G>A	NCBI36
NG_007107.2:g.109860C>T
NG_007107.3:g.109836C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.316C>T MANE Plus Clinical	ENSP00000301948.6:p.Arg106Trp
ENST00000453960.7:c.352C>T MANE Select	ENSP00000395535.2:p.Arg118Trp
ENST00000303391.10:c.316C>T	ENSP00000301948.6:p.Arg106Trp
ENST00000369957.5:c.*370C>T	ENSP00000358973.4:n.*370C>T
ENST00000407218.5:c.352C>T	ENSP00000384865.2:p.Arg118Trp
ENST00000453960.6:c.352C>T	ENSP00000395535.2:p.Arg118Trp
ENST00000486506.5:n.2664C>T
ENST00000611468.1:c.304C>T	ENSP00000479736.1:p.Arg102Trp
ENST00000619732.4:c.316C>T	ENSP00000480973.1:p.Arg106Trp
ENST00000622433.4:c.304C>T	ENSP00000484470.1:p.Arg102Trp
ENST00000628176.2:c.316C>T	ENSP00000486978.1:p.Arg106Trp
NM_001110792.1:c.352C>T	NP_001104262.1:p.Arg118Trp
NM_001316337.1:c.37C>T	NP_001303266.1:p.Arg13Trp
NM_004992.3:c.316C>T	NP_004983.1:p.Arg106Trp
XM_005274681.3:c.316C>T	XP_005274738.1:p.Arg106Trp
XM_005274682.3:c.37C>T	XP_005274739.1:p.Arg13Trp
XM_005274683.3:c.37C>T	XP_005274740.1:p.Arg13Trp
XM_011531166.1:c.37C>T	XP_011529468.1:p.Arg13Trp
XM_006724819.3:c.-245C>T	XP_006724882.1:n.-245C>T
XM_011531166.2:c.37C>T	XP_011529468.1:p.Arg13Trp
XM_024452383.1:c.37C>T	XP_024308151.1:p.Arg13Trp
XM_024452384.1:c.37C>T	XP_024308152.1:p.Arg13Trp
NM_001110792.2:c.352C>T MANE Select	NP_001104262.1:p.Arg118Trp
NM_001316337.2:c.37C>T	NP_001303266.1:p.Arg13Trp
NM_001369391.2:c.37C>T	NP_001356320.1:p.Arg13Trp
NM_001369392.2:c.37C>T	NP_001356321.1:p.Arg13Trp
NM_001369393.2:c.37C>T	NP_001356322.1:p.Arg13Trp
NM_001369394.1:c.37C>T	NP_001356323.1:p.Arg13Trp
NM_001369394.2:c.37C>T	NP_001356323.1:p.Arg13Trp
NM_001386137.1:c.-245C>T	NP_001373066.1:n.-245C>T
NM_001386138.1:c.-245C>T	NP_001373067.1:n.-245C>T
NM_001386139.1:c.-245C>T	NP_001373068.1:n.-245C>T
NM_004992.4:c.316C>T MANE Plus Clinical	NP_004983.1:p.Arg106Trp