Canonical Allele Identifier: CA199319
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143344
dbSNP Id: rs267608572

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030690C>T , CM000685.2:g.154030690C>T GRCh38
NC_000023.10:g.153296141C>T , CM000685.1:g.153296141C>T GRCh37
NC_000023.9:g.152949335C>T NCBI36
NG_007107.2:g.111438G>A
NG_007107.3:g.111414G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.1138G>A MANE Plus Clinical ENSP00000301948.6:p.Val380Met
ENST00000453960.7:c.1174G>A MANE Select ENSP00000395535.2:p.Val392Met
ENST00000303391.10:c.1138G>A ENSP00000301948.6:p.Val380Met
ENST00000407218.5:c.*510G>A ENSP00000384865.2:n.*510G>A
ENST00000453960.6:c.1174G>A ENSP00000395535.2:p.Val392Met
ENST00000619732.4:c.1138G>A ENSP00000480973.1:p.Val380Met
ENST00000628176.2:c.*510G>A ENSP00000486978.1:n.*510G>A
NM_001110792.1:c.1174G>A NP_001104262.1:p.Val392Met
NM_001316337.1:c.859G>A NP_001303266.1:p.Val287Met
NM_004992.3:c.1138G>A NP_004983.1:p.Val380Met
XM_005274681.3:c.1138G>A XP_005274738.1:p.Val380Met
XM_005274682.3:c.859G>A XP_005274739.1:p.Val287Met
XM_005274683.3:c.859G>A XP_005274740.1:p.Val287Met
XM_006724819.2:c.469G>A XP_006724882.1:p.Val157Met
XM_011531166.1:c.859G>A XP_011529468.1:p.Val287Met
XM_006724819.3:c.469G>A XP_006724882.1:p.Val157Met
XM_011531166.2:c.859G>A XP_011529468.1:p.Val287Met
XM_024452383.1:c.859G>A XP_024308151.1:p.Val287Met
XM_024452384.1:c.859G>A XP_024308152.1:p.Val287Met
NM_001110792.2:c.1174G>A MANE Select NP_001104262.1:p.Val392Met
NM_001316337.2:c.859G>A NP_001303266.1:p.Val287Met
NM_001369391.2:c.859G>A NP_001356320.1:p.Val287Met
NM_001369392.2:c.859G>A NP_001356321.1:p.Val287Met
NM_001369393.2:c.859G>A NP_001356322.1:p.Val287Met
NM_001369394.1:c.859G>A NP_001356323.1:p.Val287Met
NM_001369394.2:c.859G>A NP_001356323.1:p.Val287Met
NM_001386137.1:c.469G>A NP_001373066.1:p.Val157Met
NM_001386138.1:c.469G>A NP_001373067.1:p.Val157Met
NM_001386139.1:c.469G>A NP_001373068.1:p.Val157Met
NM_004992.4:c.1138G>A MANE Plus Clinical NP_004983.1:p.Val380Met