Canonical Allele Identifier: CA415301538

Gene: MECP2

Linked Data

• MyVariant Identifiers: chrX:g.153363106G>C (hg19) ; chrX:g.154097649G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097649G>C , CM000685.2:g.154097649G>C	GRCh38
NC_000023.10:g.153363106G>C , CM000685.1:g.153363106G>C	GRCh37
NC_000023.9:g.153016300G>C	NCBI36
NG_007107.2:g.44473C>G
NG_007107.3:g.44455C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-144C>G MANE Plus Clinical	ENSP00000301948.6:n.-144C>G
ENST00000453960.7:c.17C>G MANE Select	ENSP00000395535.2:p.Ala6Gly
ENST00000303391.10:c.-144C>G	ENSP00000301948.6:n.-144C>G
ENST00000369957.5:c.-144C>G	ENSP00000358973.4:n.-144C>G
ENST00000407218.5:c.17C>G	ENSP00000384865.2:p.Ala6Gly
ENST00000453960.6:c.17C>G	ENSP00000395535.2:p.Ala6Gly
ENST00000619732.4:c.-144C>G	ENSP00000480973.1:n.-144C>G
ENST00000627864.1:n.32C>G
ENST00000628176.2:c.-144C>G	ENSP00000486978.1:n.-144C>G
ENST00000631210.1:n.305+7132C>G
NM_001110792.1:c.17C>G	NP_001104262.1:p.Ala6Gly
NM_001316337.1:c.-591C>G	NP_001303266.1:n.-591C>G
NM_004992.3:c.-144C>G	NP_004983.1:n.-144C>G
XM_005274682.3:c.-535C>G	XP_005274739.1:n.-535C>G
NM_001110792.2:c.17C>G MANE Select	NP_001104262.1:p.Ala6Gly
NM_001316337.2:c.-591C>G	NP_001303266.1:n.-591C>G
NM_001369391.2:c.-886C>G	NP_001356320.1:n.-886C>G
NM_001369392.2:c.-535C>G	NP_001356321.1:n.-535C>G
NM_001369393.2:c.-411C>G	NP_001356322.1:n.-411C>G
NM_001386137.1:c.-816C>G	NP_001373066.1:n.-816C>G
NM_001386138.1:c.-704C>G	NP_001373067.1:n.-704C>G
NM_001386139.1:c.-580C>G	NP_001373068.1:n.-580C>G
NM_004992.4:c.-144C>G MANE Plus Clinical	NP_004983.1:n.-144C>G