Canonical Allele Identifier: CA519321038

Gene: MECP2

Linked Data

• ClinVar Variation Id: 1768926
• ClinVar RCV Id: RCV002383143 ; RCV003439012 ; RCV003638869
• dbSNP Id: rs1437033667
• gnomAD v2: X-153363114-G-A
• gnomAD v3: X-154097657-G-A
• gnomAD v4: X-154097657-G-A
• MyVariant Identifiers: chrX:g.153363114G>A (hg19) ; chrX:g.154097657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097657G>A , CM000685.2:g.154097657G>A	GRCh38
NC_000023.10:g.153363114G>A , CM000685.1:g.153363114G>A	GRCh37
NC_000023.9:g.153016308G>A	NCBI36
NG_007107.2:g.44465C>T
NG_007107.3:g.44447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-152C>T MANE Plus Clinical	ENSP00000301948.6:n.-152C>T
ENST00000453960.7:c.9C>T MANE Select	ENSP00000395535.2:p.Ala3=
ENST00000303391.10:c.-152C>T	ENSP00000301948.6:n.-152C>T
ENST00000369957.5:c.-152C>T	ENSP00000358973.4:n.-152C>T
ENST00000407218.5:c.9C>T	ENSP00000384865.2:p.Ala3=
ENST00000453960.6:c.9C>T	ENSP00000395535.2:p.Ala3=
ENST00000619732.4:c.-152C>T	ENSP00000480973.1:n.-152C>T
ENST00000627864.1:n.24C>T
ENST00000628176.2:c.-152C>T	ENSP00000486978.1:n.-152C>T
ENST00000631210.1:n.305+7124C>T
NM_001110792.1:c.9C>T	NP_001104262.1:p.Ala3=
NM_001316337.1:c.-599C>T	NP_001303266.1:n.-599C>T
NM_004992.3:c.-152C>T	NP_004983.1:n.-152C>T
XM_005274682.3:c.-543C>T	XP_005274739.1:n.-543C>T
NM_001110792.2:c.9C>T MANE Select	NP_001104262.1:p.Ala3=
NM_001316337.2:c.-599C>T	NP_001303266.1:n.-599C>T
NM_001369391.2:c.-894C>T	NP_001356320.1:n.-894C>T
NM_001369392.2:c.-543C>T	NP_001356321.1:n.-543C>T
NM_001369393.2:c.-419C>T	NP_001356322.1:n.-419C>T
NM_001386137.1:c.-824C>T	NP_001373066.1:n.-824C>T
NM_001386138.1:c.-712C>T	NP_001373067.1:n.-712C>T
NM_001386139.1:c.-588C>T	NP_001373068.1:n.-588C>T
NM_004992.4:c.-152C>T MANE Plus Clinical	NP_004983.1:n.-152C>T