Canonical Allele Identifier: CA415301244

Gene: MECP2

Linked Data

• MyVariant Identifiers: chrX:g.153363091C>G (hg19) ; chrX:g.154097634C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097634C>G , CM000685.2:g.154097634C>G	GRCh38
NC_000023.10:g.153363091C>G , CM000685.1:g.153363091C>G	GRCh37
NC_000023.9:g.153016285C>G	NCBI36
NG_007107.2:g.44488G>C
NG_007107.3:g.44470G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-129G>C MANE Plus Clinical	ENSP00000301948.6:n.-129G>C
ENST00000453960.7:c.32G>C MANE Select	ENSP00000395535.2:p.Gly11Ala
ENST00000303391.10:c.-129G>C	ENSP00000301948.6:n.-129G>C
ENST00000369957.5:c.-129G>C	ENSP00000358973.4:n.-129G>C
ENST00000407218.5:c.32G>C	ENSP00000384865.2:p.Gly11Ala
ENST00000453960.6:c.32G>C	ENSP00000395535.2:p.Gly11Ala
ENST00000619732.4:c.-129G>C	ENSP00000480973.1:n.-129G>C
ENST00000627864.1:n.47G>C
ENST00000628176.2:c.-129G>C	ENSP00000486978.1:n.-129G>C
ENST00000631210.1:n.305+7147G>C
NM_001110792.1:c.32G>C	NP_001104262.1:p.Gly11Ala
NM_001316337.1:c.-576G>C	NP_001303266.1:n.-576G>C
NM_004992.3:c.-129G>C	NP_004983.1:n.-129G>C
XM_005274682.3:c.-520G>C	XP_005274739.1:n.-520G>C
NM_001110792.2:c.32G>C MANE Select	NP_001104262.1:p.Gly11Ala
NM_001316337.2:c.-576G>C	NP_001303266.1:n.-576G>C
NM_001369391.2:c.-871G>C	NP_001356320.1:n.-871G>C
NM_001369392.2:c.-520G>C	NP_001356321.1:n.-520G>C
NM_001369393.2:c.-396G>C	NP_001356322.1:n.-396G>C
NM_001386137.1:c.-801G>C	NP_001373066.1:n.-801G>C
NM_001386138.1:c.-689G>C	NP_001373067.1:n.-689G>C
NM_001386139.1:c.-565G>C	NP_001373068.1:n.-565G>C
NM_004992.4:c.-129G>C MANE Plus Clinical	NP_004983.1:n.-129G>C