Canonical Allele Identifier: CA270348

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143534
• ClinVar RCV Id: RCV000133067 ; RCV001542086 ; RCV003333738 ; RCV003989324
• dbSNP Id: rs61754457
• MyVariant Identifiers: chrX:g.153297718C>T (hg19) ; chrX:g.154032267C>T (hg38)
• PubMed: PMID:10814719 ; PMID:11055898 ; PMID:11738865 ; PMID:12180070 ; PMID:15737703 ; PMID:16473305 ; PMID:17089071 ; PMID:21160487

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032267C>T , CM000685.2:g.154032267C>T	GRCh38
NC_000023.10:g.153297718C>T , CM000685.1:g.153297718C>T	GRCh37
NC_000023.9:g.152950912C>T	NCBI36
NG_007107.2:g.109861G>A
NG_007107.3:g.109837G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.317G>A MANE Plus Clinical	ENSP00000301948.6:p.Arg106Gln
ENST00000453960.7:c.353G>A MANE Select	ENSP00000395535.2:p.Arg118Gln
ENST00000303391.10:c.317G>A	ENSP00000301948.6:p.Arg106Gln
ENST00000369957.5:c.*371G>A	ENSP00000358973.4:n.*371G>A
ENST00000407218.5:c.353G>A	ENSP00000384865.2:p.Arg118Gln
ENST00000453960.6:c.353G>A	ENSP00000395535.2:p.Arg118Gln
ENST00000486506.5:n.2665G>A
ENST00000611468.1:c.305G>A	ENSP00000479736.1:p.Arg102Gln
ENST00000619732.4:c.317G>A	ENSP00000480973.1:p.Arg106Gln
ENST00000622433.4:c.305G>A	ENSP00000484470.1:p.Arg102Gln
ENST00000628176.2:c.317G>A	ENSP00000486978.1:p.Arg106Gln
NM_001110792.1:c.353G>A	NP_001104262.1:p.Arg118Gln
NM_001316337.1:c.38G>A	NP_001303266.1:p.Arg13Gln
NM_004992.3:c.317G>A	NP_004983.1:p.Arg106Gln
XM_005274681.3:c.317G>A	XP_005274738.1:p.Arg106Gln
XM_005274682.3:c.38G>A	XP_005274739.1:p.Arg13Gln
XM_005274683.3:c.38G>A	XP_005274740.1:p.Arg13Gln
XM_011531166.1:c.38G>A	XP_011529468.1:p.Arg13Gln
XM_006724819.3:c.-244G>A	XP_006724882.1:n.-244G>A
XM_011531166.2:c.38G>A	XP_011529468.1:p.Arg13Gln
XM_024452383.1:c.38G>A	XP_024308151.1:p.Arg13Gln
XM_024452384.1:c.38G>A	XP_024308152.1:p.Arg13Gln
NM_001110792.2:c.353G>A MANE Select	NP_001104262.1:p.Arg118Gln
NM_001316337.2:c.38G>A	NP_001303266.1:p.Arg13Gln
NM_001369391.2:c.38G>A	NP_001356320.1:p.Arg13Gln
NM_001369392.2:c.38G>A	NP_001356321.1:p.Arg13Gln
NM_001369393.2:c.38G>A	NP_001356322.1:p.Arg13Gln
NM_001369394.1:c.38G>A	NP_001356323.1:p.Arg13Gln
NM_001369394.2:c.38G>A	NP_001356323.1:p.Arg13Gln
NM_001386137.1:c.-244G>A	NP_001373066.1:n.-244G>A
NM_001386138.1:c.-244G>A	NP_001373067.1:n.-244G>A
NM_001386139.1:c.-244G>A	NP_001373068.1:n.-244G>A
NM_004992.4:c.317G>A MANE Plus Clinical	NP_004983.1:p.Arg106Gln