Canonical Allele Identifier: CA170111

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143252
• ClinVar RCV Id: RCV000132776 ; RCV003133147 ; RCV003380423
• dbSNP Id: rs267608355
• gnomAD v2: X-153294450-G-T
• gnomAD v3: X-154028999-G-T
• gnomAD v4: X-154028999-G-T
• MyVariant Identifiers: chrX:g.153294450G>T (hg19) ; chrX:g.154028999G>T (hg38)
• PubMed: PMID:17427193

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154028999G>T , CM000685.2:g.154028999G>T	GRCh38
NC_000023.10:g.153294450G>T , CM000685.1:g.153294450G>T	GRCh37
NC_000023.9:g.152947644G>T	NCBI36
NG_007107.2:g.113129C>A
NG_007107.3:g.113105C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.*1368C>A MANE Plus Clinical	ENSP00000301948.6:n.*1368C>A
ENST00000453960.7:c.*1368C>A MANE Select	ENSP00000395535.2:n.*1368C>A
ENST00000303391.10:c.*1368C>A	ENSP00000301948.6:n.*1368C>A
ENST00000619732.4:c.*1295C>A	ENSP00000480973.1:n.*1295C>A
NM_004992.3:c.*1368C>A	NP_004983.1:n.*1368C>A
XM_005274681.3:c.*1368C>A	XP_005274738.1:n.*1368C>A
XM_005274682.3:c.*1368C>A	XP_005274739.1:n.*1368C>A
XM_005274683.3:c.*1368C>A	XP_005274740.1:n.*1368C>A
XM_006724819.2:c.*1368C>A	XP_006724882.1:n.*1368C>A
XM_011531166.1:c.*1368C>A	XP_011529468.1:n.*1368C>A
XM_006724819.3:c.*1368C>A	XP_006724882.1:n.*1368C>A
XM_011531166.2:c.*1368C>A	XP_011529468.1:n.*1368C>A
XM_024452383.1:c.*1368C>A	XP_024308151.1:n.*1368C>A
XM_024452384.1:c.*1368C>A	XP_024308152.1:n.*1368C>A
NM_001110792.2:c.*1368C>A MANE Select	NP_001104262.1:n.*1368C>A
NM_001316337.2:c.*1368C>A	NP_001303266.1:n.*1368C>A
NM_001369391.2:c.*1368C>A	NP_001356320.1:n.*1368C>A
NM_001369392.2:c.*1368C>A	NP_001356321.1:n.*1368C>A
NM_001369393.2:c.*1368C>A	NP_001356322.1:n.*1368C>A
NM_001369394.2:c.*1368C>A	NP_001356323.1:n.*1368C>A
NM_001386137.1:c.*1368C>A	NP_001373066.1:n.*1368C>A
NM_001386138.1:c.*1368C>A	NP_001373067.1:n.*1368C>A
NM_001386139.1:c.*1368C>A	NP_001373068.1:n.*1368C>A
NM_004992.4:c.*1368C>A MANE Plus Clinical	NP_004983.1:n.*1368C>A