Canonical Allele Identifier: CA3065052963
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032528T= , CM000685.2:g.154032528T= GRCh38
NC_000023.10:g.153297979T= , CM000685.1:g.153297979T= GRCh37
NC_000023.9:g.152951173T= NCBI36
NG_007107.2:g.109600A=
NG_007107.3:g.109576A=

Transcript Alleles

HGVS Amino-acid Change
NM_001110792.2:c.92A= MANE Select NP_001104262.1:p.Gln31=
ENST00000453960.7:c.92A= MANE Select ENSP00000395535.2:p.Gln31=
NM_004992.4:c.56A= MANE Plus Clinical NP_004983.1:p.Gln19=
ENST00000303391.11:c.56A= MANE Plus Clinical ENSP00000301948.6:p.Gln19=
NM_001110792.1:c.92A= NP_001104262.1:p.Gln31=
NM_001316337.1:c.-224A= NP_001303266.1:n.-224A=
NM_001316337.2:c.-224A= NP_001303266.1:n.-224A=
NM_001369391.2:c.-224A= NP_001356320.1:n.-224A=
NM_001369392.2:c.-224A= NP_001356321.1:n.-224A=
NM_001369393.2:c.-224A= NP_001356322.1:n.-224A=
NM_001369394.1:c.-224A= NP_001356323.1:n.-224A=
NM_001369394.2:c.-224A= NP_001356323.1:n.-224A=
NM_001386137.1:c.-505A= NP_001373066.1:n.-505A=
NM_001386138.1:c.-505A= NP_001373067.1:n.-505A=
NM_001386139.1:c.-505A= NP_001373068.1:n.-505A=
NM_004992.3:c.56A= NP_004983.1:p.Gln19=
ENST00000303391.10:c.56A= ENSP00000301948.6:p.Gln19=
ENST00000369957.5:c.*110A= ENSP00000358973.4:n.*110A=
ENST00000407218.5:c.92A= ENSP00000384865.2:p.Gln31=
ENST00000415944.3:c.56A= ENSP00000416267.1:p.Gln19=
ENST00000453960.6:c.92A= ENSP00000395535.2:p.Gln31=
ENST00000460227.4:n.1205A=
ENST00000463644.5:n.995A=
ENST00000481807.3:n.342A=
ENST00000486506.5:n.2404A=
ENST00000488293.4:n.1105A=
ENST00000496908.5:n.187A=
ENST00000611468.1:c.44A= ENSP00000479736.1:p.Gln15=
ENST00000611468.2:n.304A=
ENST00000619732.4:c.56A= ENSP00000480973.1:p.Gln19=
ENST00000622433.4:c.44A= ENSP00000484470.1:p.Gln15=
ENST00000625300.1:n.281A=
ENST00000626422.2:n.766A=
ENST00000628176.2:c.56A= ENSP00000486978.1:p.Gln19=
ENST00000630151.1:c.56A= ENSP00000486089.1:p.Gln19=
ENST00000630151.2:c.56A= ENSP00000486089.1:p.Gln19=
ENST00000631210.1:n.335A=
ENST00000637533.1:n.87A=
ENST00000675526.1:c.*449A= ENSP00000501710.1:n.*449A=
ENST00000676382.1:n.249A=
ENST00000700484.1:n.164A=
XM_005274681.3:c.56A= XP_005274738.1:p.Gln19=
XM_005274682.3:c.-224A= XP_005274739.1:n.-224A=
XM_005274683.3:c.-224A= XP_005274740.1:n.-224A=
XM_006724819.3:c.-505A= XP_006724882.1:n.-505A=
XM_011531166.1:c.-224A= XP_011529468.1:n.-224A=
XM_011531166.2:c.-224A= XP_011529468.1:n.-224A=
XM_024452383.1:c.-224A= XP_024308151.1:n.-224A=
XM_024452384.1:c.-224A= XP_024308152.1:n.-224A=