Canonical Allele Identifier: CA2466571633
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032467T= , CM000685.2:g.154032467T= GRCh38
NC_000023.10:g.153297918T= , CM000685.1:g.153297918T= GRCh37
NC_000023.9:g.152951112T= NCBI36
NG_007107.2:g.109661A=
NG_007107.3:g.109637A=

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.117A= MANE Plus Clinical ENSP00000301948.6:p.Lys39=
ENST00000453960.7:c.153A= MANE Select ENSP00000395535.2:p.Lys51=
ENST00000611468.2:n.365A=
ENST00000630151.2:c.117A= ENSP00000486089.1:p.Lys39=
ENST00000676382.1:n.310A=
ENST00000303391.10:c.117A= ENSP00000301948.6:p.Lys39=
ENST00000369957.5:c.*171A= ENSP00000358973.4:n.*171A=
ENST00000407218.5:c.153A= ENSP00000384865.2:p.Lys51=
ENST00000415944.3:c.117A= ENSP00000416267.1:p.Lys39=
ENST00000453960.6:c.153A= ENSP00000395535.2:p.Lys51=
ENST00000460227.4:n.1266A=
ENST00000463644.5:n.1056A=
ENST00000481807.3:n.403A=
ENST00000486506.5:n.2465A=
ENST00000488293.4:n.1166A=
ENST00000496908.5:n.248A=
ENST00000611468.1:c.105A= ENSP00000479736.1:p.Lys35=
ENST00000619732.4:c.117A= ENSP00000480973.1:p.Lys39=
ENST00000622433.4:c.105A= ENSP00000484470.1:p.Lys35=
ENST00000625300.1:n.342A=
ENST00000626422.2:n.827A=
ENST00000628176.2:c.117A= ENSP00000486978.1:p.Lys39=
ENST00000630151.1:c.117A= ENSP00000486089.1:p.Lys39=
ENST00000631210.1:n.396A=
NM_001110792.1:c.153A= NP_001104262.1:p.Lys51=
NM_001316337.1:c.-163A= NP_001303266.1:n.-163A=
NM_004992.3:c.117A= NP_004983.1:p.Lys39=
XM_005274681.3:c.117A= XP_005274738.1:p.Lys39=
XM_005274682.3:c.-163A= XP_005274739.1:n.-163A=
XM_005274683.3:c.-163A= XP_005274740.1:n.-163A=
XM_011531166.1:c.-163A= XP_011529468.1:n.-163A=
XM_006724819.3:c.-444A= XP_006724882.1:n.-444A=
XM_011531166.2:c.-163A= XP_011529468.1:n.-163A=
XM_024452383.1:c.-163A= XP_024308151.1:n.-163A=
XM_024452384.1:c.-163A= XP_024308152.1:n.-163A=
NM_001110792.2:c.153A= MANE Select NP_001104262.1:p.Lys51=
NM_001316337.2:c.-163A= NP_001303266.1:n.-163A=
NM_001369391.2:c.-163A= NP_001356320.1:n.-163A=
NM_001369392.2:c.-163A= NP_001356321.1:n.-163A=
NM_001369393.2:c.-163A= NP_001356322.1:n.-163A=
NM_001369394.1:c.-163A= NP_001356323.1:n.-163A=
NM_001369394.2:c.-163A= NP_001356323.1:n.-163A=
NM_001386137.1:c.-444A= NP_001373066.1:n.-444A=
NM_001386138.1:c.-444A= NP_001373067.1:n.-444A=
NM_001386139.1:c.-444A= NP_001373068.1:n.-444A=
NM_004992.4:c.117A= MANE Plus Clinical NP_004983.1:p.Lys39=