Canonical Allele Identifier: CA270407

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143567
• ClinVar RCV Id: RCV000133101 ; RCV001508975
• dbSNP Id: rs267608475
• MyVariant Identifiers: chrX:g.153296866A>G (hg19) ; chrX:g.154031415A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031415A>G , CM000685.2:g.154031415A>G	GRCh38
NC_000023.10:g.153296866A>G , CM000685.1:g.153296866A>G	GRCh37
NC_000023.9:g.152950060A>G	NCBI36
NG_007107.2:g.110713T>C
NG_007107.3:g.110689T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.413T>C MANE Plus Clinical	ENSP00000301948.6:p.Leu138Ser
ENST00000453960.7:c.449T>C MANE Select	ENSP00000395535.2:p.Leu150Ser
ENST00000637917.1:c.46T>C
ENST00000303391.10:c.413T>C	ENSP00000301948.6:p.Leu138Ser
ENST00000369957.5:c.*467T>C	ENSP00000358973.4:n.*467T>C
ENST00000407218.5:c.449T>C	ENSP00000384865.2:p.Leu150Ser
ENST00000453960.6:c.449T>C	ENSP00000395535.2:p.Leu150Ser
ENST00000486506.5:n.2761T>C
ENST00000611468.1:c.401T>C	ENSP00000479736.1:p.Leu134Ser
ENST00000619732.4:c.413T>C	ENSP00000480973.1:p.Leu138Ser
ENST00000622433.4:c.401T>C	ENSP00000484470.1:p.Leu134Ser
ENST00000628176.2:c.413T>C	ENSP00000486978.1:p.Leu138Ser
NM_001110792.1:c.449T>C	NP_001104262.1:p.Leu150Ser
NM_001316337.1:c.134T>C	NP_001303266.1:p.Leu45Ser
NM_004992.3:c.413T>C	NP_004983.1:p.Leu138Ser
XM_005274681.3:c.413T>C	XP_005274738.1:p.Leu138Ser
XM_005274682.3:c.134T>C	XP_005274739.1:p.Leu45Ser
XM_005274683.3:c.134T>C	XP_005274740.1:p.Leu45Ser
XM_006724819.2:c.-148T>C	XP_006724882.1:n.-148T>C
XM_011531166.1:c.134T>C	XP_011529468.1:p.Leu45Ser
XM_006724819.3:c.-148T>C	XP_006724882.1:n.-148T>C
XM_011531166.2:c.134T>C	XP_011529468.1:p.Leu45Ser
XM_024452383.1:c.134T>C	XP_024308151.1:p.Leu45Ser
XM_024452384.1:c.134T>C	XP_024308152.1:p.Leu45Ser
NM_001110792.2:c.449T>C MANE Select	NP_001104262.1:p.Leu150Ser
NM_001316337.2:c.134T>C	NP_001303266.1:p.Leu45Ser
NM_001369391.2:c.134T>C	NP_001356320.1:p.Leu45Ser
NM_001369392.2:c.134T>C	NP_001356321.1:p.Leu45Ser
NM_001369393.2:c.134T>C	NP_001356322.1:p.Leu45Ser
NM_001369394.1:c.134T>C	NP_001356323.1:p.Leu45Ser
NM_001369394.2:c.134T>C	NP_001356323.1:p.Leu45Ser
NM_001386137.1:c.-148T>C	NP_001373066.1:n.-148T>C
NM_001386138.1:c.-148T>C	NP_001373067.1:n.-148T>C
NM_001386139.1:c.-148T>C	NP_001373068.1:n.-148T>C
NM_004992.4:c.413T>C MANE Plus Clinical	NP_004983.1:p.Leu138Ser