Canonical Allele Identifier: CA199325

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143749
• ClinVar RCV Id: RCV000133293 ; RCV000170240 ; RCV000170241 ; RCV000169947 ; RCV000624661 ; RCV001049007 ; RCV000851523 ; RCV003984819
• dbSNP Id: rs61751444
• MyVariant Identifiers: chrX:g.153296354G>A (hg19) ; chrX:g.154030903G>A (hg38)
• ERepo: CA199325/MONDO:0010726/016
• PubMed: PMID:8177735 ; PMID:10508514 ; PMID:11035019 ; PMID:11058114 ; PMID:11227330 ; PMID:12615169 ; PMID:15057977 ; PMID:15558314 ; PMID:16169931 ; PMID:16832102 ; PMID:17084570 ; PMID:17236109 ; PMID:17267601 ; PMID:17351020 ; PMID:18337588 ; PMID:20479760 ; PMID:21154482 ; PMID:21160487 ; PMID:23421866 ; PMID:23810759 ; PMID:24458799 ; PMID:27354166 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030903G>A , CM000685.2:g.154030903G>A	GRCh38
NC_000023.10:g.153296354G>A , CM000685.1:g.153296354G>A	GRCh37
NC_000023.9:g.152949548G>A	NCBI36
NG_007107.2:g.111225C>T
NG_007107.3:g.111201C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.925C>T MANE Plus Clinical	ENSP00000301948.6:p.Arg309Trp
ENST00000453960.7:c.961C>T MANE Select	ENSP00000395535.2:p.Arg321Trp
ENST00000637917.1:c.99C>T
ENST00000303391.10:c.925C>T	ENSP00000301948.6:p.Arg309Trp
ENST00000407218.5:c.*297C>T	ENSP00000384865.2:n.*297C>T
ENST00000453960.6:c.961C>T	ENSP00000395535.2:p.Arg321Trp
ENST00000619732.4:c.925C>T	ENSP00000480973.1:p.Arg309Trp
ENST00000622433.4:c.911C>T	ENSP00000484470.1:p.Pro304Leu
ENST00000628176.2:c.*297C>T	ENSP00000486978.1:n.*297C>T
NM_001110792.1:c.961C>T	NP_001104262.1:p.Arg321Trp
NM_001316337.1:c.646C>T	NP_001303266.1:p.Arg216Trp
NM_004992.3:c.925C>T	NP_004983.1:p.Arg309Trp
XM_005274681.3:c.925C>T	XP_005274738.1:p.Arg309Trp
XM_005274682.3:c.646C>T	XP_005274739.1:p.Arg216Trp
XM_005274683.3:c.646C>T	XP_005274740.1:p.Arg216Trp
XM_006724819.2:c.256C>T	XP_006724882.1:p.Arg86Trp
XM_011531166.1:c.646C>T	XP_011529468.1:p.Arg216Trp
XM_006724819.3:c.256C>T	XP_006724882.1:p.Arg86Trp
XM_011531166.2:c.646C>T	XP_011529468.1:p.Arg216Trp
XM_024452383.1:c.646C>T	XP_024308151.1:p.Arg216Trp
XM_024452384.1:c.646C>T	XP_024308152.1:p.Arg216Trp
NM_001110792.2:c.961C>T MANE Select	NP_001104262.1:p.Arg321Trp
NM_001316337.2:c.646C>T	NP_001303266.1:p.Arg216Trp
NM_001369391.2:c.646C>T	NP_001356320.1:p.Arg216Trp
NM_001369392.2:c.646C>T	NP_001356321.1:p.Arg216Trp
NM_001369393.2:c.646C>T	NP_001356322.1:p.Arg216Trp
NM_001369394.1:c.646C>T	NP_001356323.1:p.Arg216Trp
NM_001369394.2:c.646C>T	NP_001356323.1:p.Arg216Trp
NM_001386137.1:c.256C>T	NP_001373066.1:p.Arg86Trp
NM_001386138.1:c.256C>T	NP_001373067.1:p.Arg86Trp
NM_001386139.1:c.256C>T	NP_001373068.1:p.Arg86Trp
NM_004992.4:c.925C>T MANE Plus Clinical	NP_004983.1:p.Arg309Trp