Canonical Allele Identifier: CA415173950
Gene: MECP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031309A>T , CM000685.2:g.154031309A>T GRCh38
NC_000023.10:g.153296760A>T , CM000685.1:g.153296760A>T GRCh37
NC_000023.9:g.152949954A>T NCBI36
NG_007107.2:g.110819T>A
NG_007107.3:g.110795T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.519T>A MANE Plus Clinical ENSP00000301948.6:p.Pro173=
ENST00000453960.7:c.555T>A MANE Select ENSP00000395535.2:p.Pro185=
ENST00000637917.1:c.65+87T>A
ENST00000303391.10:c.519T>A ENSP00000301948.6:p.Pro173=
ENST00000407218.5:c.469-23T>A ENSP00000384865.2:n.469-23T>A
ENST00000453960.6:c.555T>A ENSP00000395535.2:p.Pro185=
ENST00000486506.5:n.2867T>A
ENST00000611468.1:c.505T>A ENSP00000479736.1:p.Ter169Lys
ENST00000619732.4:c.519T>A ENSP00000480973.1:p.Pro173=
ENST00000622433.4:c.507T>A ENSP00000484470.1:p.Pro169=
ENST00000628176.2:c.433-23T>A ENSP00000486978.1:n.433-23T>A
NM_001110792.1:c.555T>A NP_001104262.1:p.Pro185=
NM_001316337.1:c.240T>A NP_001303266.1:p.Pro80=
NM_004992.3:c.519T>A NP_004983.1:p.Pro173=
XM_005274681.3:c.519T>A XP_005274738.1:p.Pro173=
XM_005274682.3:c.240T>A XP_005274739.1:p.Pro80=
XM_005274683.3:c.240T>A XP_005274740.1:p.Pro80=
XM_006724819.2:c.-128-23T>A XP_006724882.1:n.-128-23T>A
XM_011531166.1:c.240T>A XP_011529468.1:p.Pro80=
XM_006724819.3:c.-128-23T>A XP_006724882.1:n.-128-23T>A
XM_011531166.2:c.240T>A XP_011529468.1:p.Pro80=
XM_024452383.1:c.240T>A XP_024308151.1:p.Pro80=
XM_024452384.1:c.240T>A XP_024308152.1:p.Pro80=
NM_001110792.2:c.555T>A MANE Select NP_001104262.1:p.Pro185=
NM_001316337.2:c.240T>A NP_001303266.1:p.Pro80=
NM_001369391.2:c.240T>A NP_001356320.1:p.Pro80=
NM_001369392.2:c.240T>A NP_001356321.1:p.Pro80=
NM_001369393.2:c.240T>A NP_001356322.1:p.Pro80=
NM_001369394.1:c.240T>A NP_001356323.1:p.Pro80=
NM_001369394.2:c.240T>A NP_001356323.1:p.Pro80=
NM_001386137.1:c.-128-23T>A NP_001373066.1:n.-128-23T>A
NM_001386138.1:c.-128-23T>A NP_001373067.1:n.-128-23T>A
NM_001386139.1:c.-128-23T>A NP_001373068.1:n.-128-23T>A
NM_004992.4:c.519T>A MANE Plus Clinical NP_004983.1:p.Pro173=