Canonical Allele Identifier: CA415301729

Gene: MECP2

Linked Data

• MyVariant Identifiers: chrX:g.153363121A>C (hg19) ; chrX:g.154097664A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097664A>C , CM000685.2:g.154097664A>C	GRCh38
NC_000023.10:g.153363121A>C , CM000685.1:g.153363121A>C	GRCh37
NC_000023.9:g.153016315A>C	NCBI36
NG_007107.2:g.44458T>G
NG_007107.3:g.44440T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.-159T>G MANE Plus Clinical	ENSP00000301948.6:n.-159T>G
ENST00000453960.7:c.2T>G MANE Select	ENSP00000395535.2:p.Met1Arg
ENST00000303391.10:c.-159T>G	ENSP00000301948.6:n.-159T>G
ENST00000407218.5:c.2T>G	ENSP00000384865.2:p.Met1Arg
ENST00000453960.6:c.2T>G	ENSP00000395535.2:p.Met1Arg
ENST00000619732.4:c.-159T>G	ENSP00000480973.1:n.-159T>G
ENST00000627864.1:n.17T>G
ENST00000628176.2:c.-159T>G	ENSP00000486978.1:n.-159T>G
ENST00000631210.1:n.305+7117T>G
NM_001110792.1:c.2T>G	NP_001104262.1:p.Met1Arg
NM_001316337.1:c.-606T>G	NP_001303266.1:n.-606T>G
NM_004992.3:c.-159T>G	NP_004983.1:n.-159T>G
XM_005274682.3:c.-550T>G	XP_005274739.1:n.-550T>G
NM_001110792.2:c.2T>G MANE Select	NP_001104262.1:p.Met1Arg
NM_001316337.2:c.-606T>G	NP_001303266.1:n.-606T>G
NM_001369391.2:c.-901T>G	NP_001356320.1:n.-901T>G
NM_001369392.2:c.-550T>G	NP_001356321.1:n.-550T>G
NM_001369393.2:c.-426T>G	NP_001356322.1:n.-426T>G
NM_001386137.1:c.-831T>G	NP_001373066.1:n.-831T>G
NM_001386138.1:c.-719T>G	NP_001373067.1:n.-719T>G
NM_001386139.1:c.-595T>G	NP_001373068.1:n.-595T>G
NM_004992.4:c.-159T>G MANE Plus Clinical	NP_004983.1:n.-159T>G