Canonical Allele Identifier: CA415301167

Gene: MECP2

Linked Data

• dbSNP Id: rs1557150864
• MyVariant Identifiers: chrX:g.153363085C>G (hg19) ; chrX:g.154097628C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097628C>G , CM000685.2:g.154097628C>G	GRCh38
NC_000023.10:g.153363085C>G , CM000685.1:g.153363085C>G	GRCh37
NC_000023.9:g.153016279C>G	NCBI36
NG_007107.2:g.44494G>C
NG_007107.3:g.44476G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-123G>C MANE Plus Clinical	ENSP00000301948.6:n.-123G>C
ENST00000453960.7:c.38G>C MANE Select	ENSP00000395535.2:p.Gly13Ala
ENST00000303391.10:c.-123G>C	ENSP00000301948.6:n.-123G>C
ENST00000369957.5:c.-123G>C	ENSP00000358973.4:n.-123G>C
ENST00000407218.5:c.38G>C	ENSP00000384865.2:p.Gly13Ala
ENST00000453960.6:c.38G>C	ENSP00000395535.2:p.Gly13Ala
ENST00000619732.4:c.-123G>C	ENSP00000480973.1:n.-123G>C
ENST00000627864.1:n.53G>C
ENST00000628176.2:c.-123G>C	ENSP00000486978.1:n.-123G>C
ENST00000631210.1:n.305+7153G>C
NM_001110792.1:c.38G>C	NP_001104262.1:p.Gly13Ala
NM_001316337.1:c.-570G>C	NP_001303266.1:n.-570G>C
NM_004992.3:c.-123G>C	NP_004983.1:n.-123G>C
XM_005274682.3:c.-514G>C	XP_005274739.1:n.-514G>C
NM_001110792.2:c.38G>C MANE Select	NP_001104262.1:p.Gly13Ala
NM_001316337.2:c.-570G>C	NP_001303266.1:n.-570G>C
NM_001369391.2:c.-865G>C	NP_001356320.1:n.-865G>C
NM_001369392.2:c.-514G>C	NP_001356321.1:n.-514G>C
NM_001369393.2:c.-390G>C	NP_001356322.1:n.-390G>C
NM_001386137.1:c.-795G>C	NP_001373066.1:n.-795G>C
NM_001386138.1:c.-683G>C	NP_001373067.1:n.-683G>C
NM_001386139.1:c.-559G>C	NP_001373068.1:n.-559G>C
NM_004992.4:c.-123G>C MANE Plus Clinical	NP_004983.1:n.-123G>C