Canonical Allele Identifier: CA873290661

Gene: MECP2

Linked Data

• dbSNP Id: rs1354438688
• gnomAD v3: X-154029347-C-T
• gnomAD v4: X-154029347-C-T
• MyVariant Identifiers: chrX:g.154029347C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154029347C>T , CM000685.2:g.154029347C>T	GRCh38
NC_000023.10:g.153294798C>T , CM000685.1:g.153294798C>T	GRCh37
NC_000023.9:g.152947992C>T	NCBI36
NG_007107.2:g.112781G>A
NG_007107.3:g.112757G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.*1020G>A MANE Plus Clinical	ENSP00000301948.6:n.*1020G>A
ENST00000453960.7:c.*1020G>A MANE Select	ENSP00000395535.2:n.*1020G>A
ENST00000303391.10:c.*1020G>A	ENSP00000301948.6:n.*1020G>A
ENST00000619732.4:c.*947G>A	ENSP00000480973.1:n.*947G>A
NM_004992.3:c.*1020G>A	NP_004983.1:n.*1020G>A
XM_005274681.3:c.*1020G>A	XP_005274738.1:n.*1020G>A
XM_005274682.3:c.*1020G>A	XP_005274739.1:n.*1020G>A
XM_005274683.3:c.*1020G>A	XP_005274740.1:n.*1020G>A
XM_006724819.2:c.*1020G>A	XP_006724882.1:n.*1020G>A
XM_011531166.1:c.*1020G>A	XP_011529468.1:n.*1020G>A
XM_006724819.3:c.*1020G>A	XP_006724882.1:n.*1020G>A
XM_011531166.2:c.*1020G>A	XP_011529468.1:n.*1020G>A
XM_024452383.1:c.*1020G>A	XP_024308151.1:n.*1020G>A
XM_024452384.1:c.*1020G>A	XP_024308152.1:n.*1020G>A
NM_001110792.2:c.*1020G>A MANE Select	NP_001104262.1:n.*1020G>A
NM_001316337.2:c.*1020G>A	NP_001303266.1:n.*1020G>A
NM_001369391.2:c.*1020G>A	NP_001356320.1:n.*1020G>A
NM_001369392.2:c.*1020G>A	NP_001356321.1:n.*1020G>A
NM_001369393.2:c.*1020G>A	NP_001356322.1:n.*1020G>A
NM_001369394.2:c.*1020G>A	NP_001356323.1:n.*1020G>A
NM_001386137.1:c.*1020G>A	NP_001373066.1:n.*1020G>A
NM_001386138.1:c.*1020G>A	NP_001373067.1:n.*1020G>A
NM_001386139.1:c.*1020G>A	NP_001373068.1:n.*1020G>A
NM_004992.4:c.*1020G>A MANE Plus Clinical	NP_004983.1:n.*1020G>A