Canonical Allele Identifier: CA415301125

Gene: MECP2

Linked Data

• MyVariant Identifiers: chrX:g.153363079C>G (hg19) ; chrX:g.154097622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097622C>G , CM000685.2:g.154097622C>G	GRCh38
NC_000023.10:g.153363079C>G , CM000685.1:g.153363079C>G	GRCh37
NC_000023.9:g.153016273C>G	NCBI36
NG_007107.2:g.44500G>C
NG_007107.3:g.44482G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.4G>C
ENST00000303391.11:c.-117G>C MANE Plus Clinical	ENSP00000301948.6:n.-117G>C
ENST00000453960.7:c.44G>C MANE Select	ENSP00000395535.2:p.Gly15Ala
ENST00000676382.1:n.4G>C
ENST00000303391.10:c.-117G>C	ENSP00000301948.6:n.-117G>C
ENST00000369957.5:c.-117G>C	ENSP00000358973.4:n.-117G>C
ENST00000407218.5:c.44G>C	ENSP00000384865.2:p.Gly15Ala
ENST00000453960.6:c.44G>C	ENSP00000395535.2:p.Gly15Ala
ENST00000619732.4:c.-117G>C	ENSP00000480973.1:n.-117G>C
ENST00000627864.1:n.59G>C
ENST00000628176.2:c.-117G>C	ENSP00000486978.1:n.-117G>C
ENST00000631210.1:n.305+7159G>C
NM_001110792.1:c.44G>C	NP_001104262.1:p.Gly15Ala
NM_001316337.1:c.-564G>C	NP_001303266.1:n.-564G>C
NM_004992.3:c.-117G>C	NP_004983.1:n.-117G>C
XM_005274682.3:c.-508G>C	XP_005274739.1:n.-508G>C
NM_001110792.2:c.44G>C MANE Select	NP_001104262.1:p.Gly15Ala
NM_001316337.2:c.-564G>C	NP_001303266.1:n.-564G>C
NM_001369391.2:c.-859G>C	NP_001356320.1:n.-859G>C
NM_001369392.2:c.-508G>C	NP_001356321.1:n.-508G>C
NM_001369393.2:c.-384G>C	NP_001356322.1:n.-384G>C
NM_001386137.1:c.-789G>C	NP_001373066.1:n.-789G>C
NM_001386138.1:c.-677G>C	NP_001373067.1:n.-677G>C
NM_001386139.1:c.-553G>C	NP_001373068.1:n.-553G>C
NM_004992.4:c.-117G>C MANE Plus Clinical	NP_004983.1:n.-117G>C