Canonical Allele Identifier: CA270396

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143562
• ClinVar RCV Id: RCV000133095 ; RCV000375578 ; RCV000698431 ; RCV002371979
• dbSNP Id: rs61748390
• MyVariant Identifiers: chrX:g.153296878G>C (hg19) ; chrX:g.154031427G>C (hg38)
• PubMed: PMID:2460487 ; PMID:10814718 ; PMID:10991688 ; PMID:11269512 ; PMID:11738864 ; PMID:11738883 ; PMID:15737703 ; PMID:16182490 ; PMID:17089071 ; PMID:17387578 ; PMID:21160487

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031427G>C , CM000685.2:g.154031427G>C	GRCh38
NC_000023.10:g.153296878G>C , CM000685.1:g.153296878G>C	GRCh37
NC_000023.9:g.152950072G>C	NCBI36
NG_007107.2:g.110701C>G
NG_007107.3:g.110677C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.401C>G MANE Plus Clinical	ENSP00000301948.6:p.Ser134Cys
ENST00000453960.7:c.437C>G MANE Select	ENSP00000395535.2:p.Ser146Cys
ENST00000637917.1:c.34C>G
ENST00000303391.10:c.401C>G	ENSP00000301948.6:p.Ser134Cys
ENST00000369957.5:c.*455C>G	ENSP00000358973.4:n.*455C>G
ENST00000407218.5:c.437C>G	ENSP00000384865.2:p.Ser146Cys
ENST00000453960.6:c.437C>G	ENSP00000395535.2:p.Ser146Cys
ENST00000486506.5:n.2749C>G
ENST00000611468.1:c.389C>G	ENSP00000479736.1:p.Ser130Cys
ENST00000619732.4:c.401C>G	ENSP00000480973.1:p.Ser134Cys
ENST00000622433.4:c.389C>G	ENSP00000484470.1:p.Ser130Cys
ENST00000628176.2:c.401C>G	ENSP00000486978.1:p.Ser134Cys
NM_001110792.1:c.437C>G	NP_001104262.1:p.Ser146Cys
NM_001316337.1:c.122C>G	NP_001303266.1:p.Ser41Cys
NM_004992.3:c.401C>G	NP_004983.1:p.Ser134Cys
XM_005274681.3:c.401C>G	XP_005274738.1:p.Ser134Cys
XM_005274682.3:c.122C>G	XP_005274739.1:p.Ser41Cys
XM_005274683.3:c.122C>G	XP_005274740.1:p.Ser41Cys
XM_006724819.2:c.-160C>G	XP_006724882.1:n.-160C>G
XM_011531166.1:c.122C>G	XP_011529468.1:p.Ser41Cys
XM_006724819.3:c.-160C>G	XP_006724882.1:n.-160C>G
XM_011531166.2:c.122C>G	XP_011529468.1:p.Ser41Cys
XM_024452383.1:c.122C>G	XP_024308151.1:p.Ser41Cys
XM_024452384.1:c.122C>G	XP_024308152.1:p.Ser41Cys
NM_001110792.2:c.437C>G MANE Select	NP_001104262.1:p.Ser146Cys
NM_001316337.2:c.122C>G	NP_001303266.1:p.Ser41Cys
NM_001369391.2:c.122C>G	NP_001356320.1:p.Ser41Cys
NM_001369392.2:c.122C>G	NP_001356321.1:p.Ser41Cys
NM_001369393.2:c.122C>G	NP_001356322.1:p.Ser41Cys
NM_001369394.1:c.122C>G	NP_001356323.1:p.Ser41Cys
NM_001369394.2:c.122C>G	NP_001356323.1:p.Ser41Cys
NM_001386137.1:c.-160C>G	NP_001373066.1:n.-160C>G
NM_001386138.1:c.-160C>G	NP_001373067.1:n.-160C>G
NM_001386139.1:c.-160C>G	NP_001373068.1:n.-160C>G
NM_004992.4:c.401C>G MANE Plus Clinical	NP_004983.1:p.Ser134Cys