Canonical Allele Identifier: CA121710

Gene: MECP2

Linked Data

• ClinVar Variation Id: 11833
• ClinVar RCV Id: RCV000012606 ; RCV000133106 ; RCV000170108 ; RCV000623504 ; RCV000729616 ; RCV001049210
• dbSNP Id: rs61748396
• MyVariant Identifiers: chrX:g.153296856G>C (hg19) ; chrX:g.154031405G>C (hg38)
• PubMed: PMID:8177735 ; PMID:10508514 ; PMID:10854091 ; PMID:11035019 ; PMID:11055898 ; PMID:11058114 ; PMID:11227330 ; PMID:11269512 ; PMID:11283202 ; PMID:11313756 ; PMID:11524741 ; PMID:11738883 ; PMID:12615169 ; PMID:15057977 ; PMID:15558314 ; PMID:15737703 ; PMID:16169931 ; PMID:16832102 ; PMID:17089071 ; PMID:17236109 ; PMID:17267601 ; PMID:17351020 ; PMID:17387578 ; PMID:18337588 ; PMID:21154482 ; PMID:23421866 ; PMID:24458799 ; PMID:27354166

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031405G>C , CM000685.2:g.154031405G>C	GRCh38
NC_000023.10:g.153296856G>C , CM000685.1:g.153296856G>C	GRCh37
NC_000023.9:g.152950050G>C	NCBI36
NG_007107.2:g.110723C>G
NG_007107.3:g.110699C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.423C>G MANE Plus Clinical	ENSP00000301948.6:p.Tyr141Ter
ENST00000453960.7:c.459C>G MANE Select	ENSP00000395535.2:p.Tyr153Ter
ENST00000637917.1:c.56C>G
ENST00000303391.10:c.423C>G	ENSP00000301948.6:p.Tyr141Ter
ENST00000369957.5:c.*477C>G	ENSP00000358973.4:n.*477C>G
ENST00000407218.5:c.459C>G	ENSP00000384865.2:p.Tyr153Ter
ENST00000453960.6:c.459C>G	ENSP00000395535.2:p.Tyr153Ter
ENST00000486506.5:n.2771C>G
ENST00000611468.1:c.411C>G	ENSP00000479736.1:p.Tyr137Ter
ENST00000619732.4:c.423C>G	ENSP00000480973.1:p.Tyr141Ter
ENST00000622433.4:c.411C>G	ENSP00000484470.1:p.Tyr137Ter
ENST00000628176.2:c.423C>G	ENSP00000486978.1:p.Tyr141Ter
NM_001110792.1:c.459C>G	NP_001104262.1:p.Tyr153Ter
NM_001316337.1:c.144C>G	NP_001303266.1:p.Tyr48Ter
NM_004992.3:c.423C>G	NP_004983.1:p.Tyr141Ter
XM_005274681.3:c.423C>G	XP_005274738.1:p.Tyr141Ter
XM_005274682.3:c.144C>G	XP_005274739.1:p.Tyr48Ter
XM_005274683.3:c.144C>G	XP_005274740.1:p.Tyr48Ter
XM_006724819.2:c.-138C>G	XP_006724882.1:n.-138C>G
XM_011531166.1:c.144C>G	XP_011529468.1:p.Tyr48Ter
XM_006724819.3:c.-138C>G	XP_006724882.1:n.-138C>G
XM_011531166.2:c.144C>G	XP_011529468.1:p.Tyr48Ter
XM_024452383.1:c.144C>G	XP_024308151.1:p.Tyr48Ter
XM_024452384.1:c.144C>G	XP_024308152.1:p.Tyr48Ter
NM_001110792.2:c.459C>G MANE Select	NP_001104262.1:p.Tyr153Ter
NM_001316337.2:c.144C>G	NP_001303266.1:p.Tyr48Ter
NM_001369391.2:c.144C>G	NP_001356320.1:p.Tyr48Ter
NM_001369392.2:c.144C>G	NP_001356321.1:p.Tyr48Ter
NM_001369393.2:c.144C>G	NP_001356322.1:p.Tyr48Ter
NM_001369394.1:c.144C>G	NP_001356323.1:p.Tyr48Ter
NM_001369394.2:c.144C>G	NP_001356323.1:p.Tyr48Ter
NM_001386137.1:c.-138C>G	NP_001373066.1:n.-138C>G
NM_001386138.1:c.-138C>G	NP_001373067.1:n.-138C>G
NM_001386139.1:c.-138C>G	NP_001373068.1:n.-138C>G
NM_004992.4:c.423C>G MANE Plus Clinical	NP_004983.1:p.Tyr141Ter