Canonical Allele Identifier: CA208886
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36492
dbSNP Id: rs193922678

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030387C>T , CM000685.2:g.154030387C>T GRCh38
NC_000023.10:g.153295838C>T , CM000685.1:g.153295838C>T GRCh37
NC_000023.9:g.152949032C>T NCBI36
NG_007107.2:g.111741G>A

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.1477G>A VV NP_001104262.1:p.Val493Met
NM_001316337.1:c.1162G>A VV NP_001303266.1:p.Val388Met
NM_004992.3:c.1441G>A VV NP_004983.1:p.Val481Met
XM_005274681.3:c.1441G>A XP_005274738.1:p.Val481Met
XM_005274682.3:c.1162G>A XP_005274739.1:p.Val388Met
XM_005274683.3:c.1162G>A XP_005274740.1:p.Val388Met
XM_006724819.2:c.772G>A XP_006724882.1:p.Val258Met
XM_011531166.1:c.1162G>A XP_011529468.1:p.Val388Met
XM_006724819.3:c.772G>A XP_006724882.1:p.Val258Met
XM_011531166.2:c.1162G>A XP_011529468.1:p.Val388Met
XM_024452383.1:c.1162G>A XP_024308151.1:p.Val388Met
XM_024452384.1:c.1162G>A XP_024308152.1:p.Val388Met
ENST00000303391.10:c.1441G>A ENSP00000301948.6:p.Val481Met
ENST00000453960.6:c.1477G>A ENSP00000395535.2:p.Val493Met
ENST00000619732.4:c.1441G>A ENSP00000480973.1:p.Val481Met
ENST00000628176.2:c.*813G>A ENSP00000486978.1:p.=