Canonical Allele Identifier: CA1138557870

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154065469A>G , CM000685.2:g.154065469A>G	GRCh38
NC_000023.10:g.153330920A>G , CM000685.1:g.153330920A>G	GRCh37
NC_000023.9:g.152984114A>G	NCBI36
NG_007107.2:g.76659T>C
NG_007107.3:g.76635T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001110792.2:c.62+32135T>C MANE Select	NP_001104262.1:n.62+32135T>C
ENST00000453960.7:c.62+32135T>C MANE Select	ENSP00000395535.2:n.62+32135T>C
NM_004992.4:c.26+26715T>C MANE Plus Clinical	NP_004983.1:n.26+26715T>C
ENST00000303391.11:c.26+26715T>C MANE Plus Clinical	ENSP00000301948.6:n.26+26715T>C
NM_001110792.1:c.62+32135T>C	NP_001104262.1:n.62+32135T>C
NM_001316337.1:c.-421-6903T>C	NP_001303266.1:n.-421-6903T>C
NM_001316337.2:c.-421-6903T>C	NP_001303266.1:n.-421-6903T>C
NM_001369391.2:c.-716-6947T>C	NP_001356320.1:n.-716-6947T>C
NM_001369392.2:c.-365-25566T>C	NP_001356321.1:n.-365-25566T>C
NM_001369393.2:c.-365-25566T>C	NP_001356322.1:n.-365-25566T>C
NM_001369394.1:c.-254+31344T>C	NP_001356323.1:n.-254+31344T>C
NM_001369394.2:c.-254+31344T>C	NP_001356323.1:n.-254+31344T>C
NM_001386137.1:c.-646-25566T>C	NP_001373066.1:n.-646-25566T>C
NM_001386138.1:c.-535+26715T>C	NP_001373067.1:n.-535+26715T>C
NM_001386139.1:c.-535+32135T>C	NP_001373068.1:n.-535+32135T>C
NM_004992.3:c.26+26715T>C	NP_004983.1:n.26+26715T>C
ENST00000303391.10:c.26+26715T>C	ENSP00000301948.6:n.26+26715T>C
ENST00000369957.5:c.27-6903T>C	ENSP00000358973.4:n.27-6903T>C
ENST00000407218.5:c.62+32135T>C	ENSP00000384865.2:n.62+32135T>C
ENST00000415944.3:c.26+26715T>C	ENSP00000416267.1:n.26+26715T>C
ENST00000453960.6:c.62+32135T>C	ENSP00000395535.2:n.62+32135T>C
ENST00000496908.5:n.157+31344T>C
ENST00000611468.1:c.14+26715T>C	ENSP00000479736.1:n.14+26715T>C
ENST00000611468.2:n.125-6921T>C
ENST00000619732.4:c.26+26715T>C	ENSP00000480973.1:n.26+26715T>C
ENST00000622433.4:c.14+26715T>C	ENSP00000484470.1:n.14+26715T>C
ENST00000628176.2:c.26+26715T>C	ENSP00000486978.1:n.26+26715T>C
ENST00000630151.1:c.26+26715T>C	ENSP00000486089.1:n.26+26715T>C
ENST00000630151.2:c.26+26715T>C	ENSP00000486089.1:n.26+26715T>C
ENST00000631210.1:n.306-32912T>C
ENST00000637533.1:n.57+31500T>C
ENST00000637791.1:n.78+26715T>C
ENST00000674996.1:c.27-6947T>C	ENSP00000502832.1:n.27-6947T>C
ENST00000675526.1:c.143-6947T>C	ENSP00000501710.1:n.143-6947T>C
ENST00000675841.1:n.125-6947T>C
ENST00000676382.1:n.23-31834T>C
ENST00000700484.1:n.23-25566T>C
XM_005274681.3:c.26+26715T>C	XP_005274738.1:n.26+26715T>C
XM_005274682.3:c.-365-25566T>C	XP_005274739.1:n.-365-25566T>C
XM_024452383.1:c.-791-6947T>C	XP_024308151.1:n.-791-6947T>C
XM_024452384.1:c.-365-25566T>C	XP_024308152.1:n.-365-25566T>C