Canonical Allele Identifier: CA519321066

Gene: MECP2

Linked Data

• dbSNP Id: rs1348207029
• gnomAD v4: X-154097683-C-T
• MyVariant Identifiers: chrX:g.153363140C>T (hg19) ; chrX:g.154097683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097683C>T , CM000685.2:g.154097683C>T	GRCh38
NC_000023.10:g.153363140C>T , CM000685.1:g.153363140C>T	GRCh37
NC_000023.9:g.153016334C>T	NCBI36
NG_007107.2:g.44439G>A
NG_007107.3:g.44421G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-178G>A MANE Plus Clinical	ENSP00000301948.6:n.-178G>A
ENST00000453960.7:c.-18G>A MANE Select	ENSP00000395535.2:n.-18G>A
ENST00000303391.10:c.-178G>A	ENSP00000301948.6:n.-178G>A
ENST00000407218.5:c.-18G>A	ENSP00000384865.2:n.-18G>A
ENST00000453960.6:c.-18G>A	ENSP00000395535.2:n.-18G>A
ENST00000619732.4:c.-178G>A	ENSP00000480973.1:n.-178G>A
ENST00000628176.2:c.-178G>A	ENSP00000486978.1:n.-178G>A
ENST00000631210.1:n.305+7098G>A
NM_001110792.1:c.-18G>A	NP_001104262.1:n.-18G>A
NM_001316337.1:c.-625G>A	NP_001303266.1:n.-625G>A
NM_004992.3:c.-178G>A	NP_004983.1:n.-178G>A
XM_005274682.3:c.-569G>A	XP_005274739.1:n.-569G>A
NM_001110792.2:c.-18G>A MANE Select	NP_001104262.1:n.-18G>A
NM_001316337.2:c.-625G>A	NP_001303266.1:n.-625G>A
NM_001369391.2:c.-920G>A	NP_001356320.1:n.-920G>A
NM_001369392.2:c.-569G>A	NP_001356321.1:n.-569G>A
NM_001369393.2:c.-445G>A	NP_001356322.1:n.-445G>A
NM_001386137.1:c.-850G>A	NP_001373066.1:n.-850G>A
NM_001386138.1:c.-738G>A	NP_001373067.1:n.-738G>A
NM_001386139.1:c.-614G>A	NP_001373068.1:n.-614G>A
NM_004992.4:c.-178G>A MANE Plus Clinical	NP_004983.1:n.-178G>A