Canonical Allele Identifier: CA415301542

Gene: MECP2

Linked Data

• gnomAD v4: X-154097650-C-A
• MyVariant Identifiers: chrX:g.153363107C>A (hg19) ; chrX:g.154097650C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097650C>A , CM000685.2:g.154097650C>A	GRCh38
NC_000023.10:g.153363107C>A , CM000685.1:g.153363107C>A	GRCh37
NC_000023.9:g.153016301C>A	NCBI36
NG_007107.2:g.44472G>T
NG_007107.3:g.44454G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-145G>T MANE Plus Clinical	ENSP00000301948.6:n.-145G>T
ENST00000453960.7:c.16G>T MANE Select	ENSP00000395535.2:p.Ala6Ser
ENST00000303391.10:c.-145G>T	ENSP00000301948.6:n.-145G>T
ENST00000369957.5:c.-145G>T	ENSP00000358973.4:n.-145G>T
ENST00000407218.5:c.16G>T	ENSP00000384865.2:p.Ala6Ser
ENST00000453960.6:c.16G>T	ENSP00000395535.2:p.Ala6Ser
ENST00000619732.4:c.-145G>T	ENSP00000480973.1:n.-145G>T
ENST00000627864.1:n.31G>T
ENST00000628176.2:c.-145G>T	ENSP00000486978.1:n.-145G>T
ENST00000631210.1:n.305+7131G>T
NM_001110792.1:c.16G>T	NP_001104262.1:p.Ala6Ser
NM_001316337.1:c.-592G>T	NP_001303266.1:n.-592G>T
NM_004992.3:c.-145G>T	NP_004983.1:n.-145G>T
XM_005274682.3:c.-536G>T	XP_005274739.1:n.-536G>T
NM_001110792.2:c.16G>T MANE Select	NP_001104262.1:p.Ala6Ser
NM_001316337.2:c.-592G>T	NP_001303266.1:n.-592G>T
NM_001369391.2:c.-887G>T	NP_001356320.1:n.-887G>T
NM_001369392.2:c.-536G>T	NP_001356321.1:n.-536G>T
NM_001369393.2:c.-412G>T	NP_001356322.1:n.-412G>T
NM_001386137.1:c.-817G>T	NP_001373066.1:n.-817G>T
NM_001386138.1:c.-705G>T	NP_001373067.1:n.-705G>T
NM_001386139.1:c.-581G>T	NP_001373068.1:n.-581G>T
NM_004992.4:c.-145G>T MANE Plus Clinical	NP_004983.1:n.-145G>T