Canonical Allele Identifier: CA337660499

Gene: MECP2

Linked Data

• dbSNP Id: rs782386891
• gnomAD v4: X-154097633-T-C
• MyVariant Identifiers: chrX:g.153363090T>C (hg19) ; chrX:g.154097633T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097633T>C , CM000685.2:g.154097633T>C	GRCh38
NC_000023.10:g.153363090T>C , CM000685.1:g.153363090T>C	GRCh37
NC_000023.9:g.153016284T>C	NCBI36
NG_007107.2:g.44489A>G
NG_007107.3:g.44471A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-128A>G MANE Plus Clinical	ENSP00000301948.6:n.-128A>G
ENST00000453960.7:c.33A>G MANE Select	ENSP00000395535.2:p.Gly11=
ENST00000303391.10:c.-128A>G	ENSP00000301948.6:n.-128A>G
ENST00000369957.5:c.-128A>G	ENSP00000358973.4:n.-128A>G
ENST00000407218.5:c.33A>G	ENSP00000384865.2:p.Gly11=
ENST00000453960.6:c.33A>G	ENSP00000395535.2:p.Gly11=
ENST00000619732.4:c.-128A>G	ENSP00000480973.1:n.-128A>G
ENST00000627864.1:n.48A>G
ENST00000628176.2:c.-128A>G	ENSP00000486978.1:n.-128A>G
ENST00000631210.1:n.305+7148A>G
NM_001110792.1:c.33A>G	NP_001104262.1:p.Gly11=
NM_001316337.1:c.-575A>G	NP_001303266.1:n.-575A>G
NM_004992.3:c.-128A>G	NP_004983.1:n.-128A>G
XM_005274682.3:c.-519A>G	XP_005274739.1:n.-519A>G
NM_001110792.2:c.33A>G MANE Select	NP_001104262.1:p.Gly11=
NM_001316337.2:c.-575A>G	NP_001303266.1:n.-575A>G
NM_001369391.2:c.-870A>G	NP_001356320.1:n.-870A>G
NM_001369392.2:c.-519A>G	NP_001356321.1:n.-519A>G
NM_001369393.2:c.-395A>G	NP_001356322.1:n.-395A>G
NM_001386137.1:c.-800A>G	NP_001373066.1:n.-800A>G
NM_001386138.1:c.-688A>G	NP_001373067.1:n.-688A>G
NM_001386139.1:c.-564A>G	NP_001373068.1:n.-564A>G
NM_004992.4:c.-128A>G MANE Plus Clinical	NP_004983.1:n.-128A>G